Cumulative subject index volumes 12–14

GENOMICS 14, 1138-1183 (1992)

Cumulative Subject Index 1 Volumes 12-14

A

Aarskog syndrome gene mapping between DXS255 and DXS566 :Xpl l . 2 -Xq l3 (hu-

man), 14, 298 Acceptor site

/~-thalassemia gene IVS- 13' end, G-C mutation involving AG invariant dinucleotide, 13, 234

Acetylcholine receptors neuronal nicotinic, subunit genes, chromosomal localization (hu-

man), 13, 962 Acetylcholinesterase

gene localization to distal chromosome 5 (mouse), 14, 511 7q22 (human), 13, 1192

N-Acetylgalactosamine-4-sulfatase feline, cDNA isolation and expression, comparison with human

ARSB, and gene mapping to feline chromosome A1, 14, 403 Acid sphingomyelinase, see Sphingomyelin phosphodiesterase Acrocentric chromosomes

fl satellite DNA subfamilies on distal and proximal short arms, characterization and localization (human), 12, 573

Actin cardiac muscle, encoding gene on 15q, regional localization (hu-

man), 13, 904 a-Actinin

skeletal muscle, gene ACTN2, (CA)n repeat polymorphism for, localization on chromosome 1 linkage map (human), 13, 1314

Acyl-CoA dehydrogenase long-chain acyl-CoA dehydrogenase, cDNA cloning, nucleotide se-

quence, and gene assignment to chromosome 2 (human), 11, 609; erratum, 12, 626

Adenomatous polyposis familial, associated APC gene, inactivating germ line mutations,

identification (human), 13, 1162 Adenylate kinase

type 3, cDNA, characterization and mapping o fAK3 pseudogene to intron ofNF1 gene (human), 13,537

Alanine-glyoxylate aminotransferase catalytic activity loss in subset of patients with primary hyperoxa-

luria type 1, induction by Gly-to-Glu substitution, 13, 215 Albino-deletion complex

minimal region for alf/hsdr-1 within, definition with chromosome jumping from flanking markers (mouse), 14, 288

physical mapping for localization of neonatal survival locus alf/ hsdr-1, 14, 275

Albright hereditary osteodystrophy Gsa gene GNAS1 in patient, identification of heterozygous 4-bp

deletion mutation, 13, 1319 Aldehyde dehydrogenase

pseudogene, nucleotide sequence analysis and assignment to chromosome 3 (human), 13, 465

Alleles cardiac a-myosin heavy chain coding sequences, differences among

four strains (mouse), 13, 176

1 Boldface numbers indicate appropriate volume; lightface numbers indicate pagination.

0888-7543/92 $5.00 1138 Copyright © 1992 by Academic Press, Inc. All rights of reproduction in any form reserved.

Ig kappa chain allotypic markers, PCR-based genotyping: allelic association of Km with kappa variable segment, 13, 104

minisatellite, detectable only afterPCR amplification, description (human), 12, 116

subtelomeric, chromosome 16pter region of divergence between, detection of large (CA) n repeat (human), 13, 81

(TG)n(AG),~ microsatellite, frequency distribution in apolipopro-

tein C-II gene (human), 12, 63 Allelic association

nonrandom, between Huntington disease and two loci separated by 3 Mb on 4p16.3 (human), 13,301

Allotypes Km, Ig kappa light chain, PCR-based genotyping for determina-

tion: allelic association of Km with kappa variable segment, 13, 104

Alport syndrome ah(IV) collagen gene DNA rearrangements in patients, refinement

with pulsed-field gel electrophoresis, 14, 624

Alu repeats apolipoprotein B intron 20, length and sequence variation (human),

14, 449 and derived sequences, potentially misleading in similarity search

for coding exons, identification, 12, 838 and L1 repeats, mediated PCR: cloning and mapping of chromo-

some 10 DNA markers (human), 13, 409 mediated PCR

based differential hybridization on chromosome 22-specific library, in rapid isolation of cosmids from defined subregions (human), 13, 395

and flow sorting, in fluorescent in situ identification of human marker chromosomes, 13, 355

Amelogenesis imperfecta X-linked, associated genetic heterogeneity (human), 14, 567

Amelogenin encoding gene

autosomal localization in monotremes and marsupials: implications for mammalian sex chromosome evolution, 14, 785

X-Y homologous, mapping to short arms of X and Y chromosomes: high degree of conservation in primates, 14, 203

Amine oxidase (flavin-containing) encoding genes

highly polymorphic region near first exon containing GT dinucleotide repeat and VNTR motif, characterization (human), 13, 896

organization and long-range physical mapping of associated region (human), 14, 75

isozyme MAO-B, intron II of encoding gene, highly polymorphic (GT), repeat sequence (human), 12, 176

Amino acid sequence Apoa-1- and Apoc-3-encoded, comparison (human, mouse, rabbit,

rat), 14, 1081 arylsulfatase B (cat, human), 14, 407 cardiac a-myosin heavy chain coding sequences: allelic differences

among four strains (mouse), 13, 176 cardiac potassium channel, KCNAl-encoded (human), 12, 729 choline acetyltransferase, comparison of human with other mam-

mals and Drosophila, 12, 412

CUMULATIVE SUBJECT INDEX 1139

cluster of tenascin-homologous fibronectin type III repeats in MHC class III region (human), 12, 485

FACIT-like collagen on human 6q12-q14: synteny with al(IX) collagen, 13, 884

GABA receptor subunit rho2 (human), 12, 801 HOX4E homeoprotein (human), 13, 425 lysyl hydroxylase, cDNA-derived, comparison with chick sequence

(human), 13, 62 a- 1,3-mannosyl-glycoprotein ~- 1,2-N-acetylglucosaminyltransfer-

ase (mouse), 12, 699 MCP and MCP-like proteins encoded in regulators of complement

activation gene cluster RCA (human), 12, 289 Mullerian inhibiting substance (rat), 12, 665 p l l calpactin I light chain, comparison with rodent and ungulate

sequences (human), 13, 866 pregnancy-specific glycoprotein N-domains (human), 12, 780 proa2(I) collagen, murine, cDNA-derived, comparison with human

proa2(I) collagen, 13, 1345 thrombospondin II (human), 12,421 TNFR1 (human), 13, 219; erratum, 13, 1384 zinc finger regions of cosmid subclones mapping to chromosome 22

(human), 13, 641 Amino acid transporter

for cationic amino acids, gene A T R C 1 , physical and genetic mapping to 13q12-q14 (human), 12, 430

"r-Aminobutyric acid receptors GABAA, al-subunit gene GABRA1, localization to distal 5q, confir-

mation by linkage analysis (human), 14, 745 subunit rho2, cDNA, identification, and colocalization of rho2 and

rhol genes to human 6q14-q21 and routine chromosome 4, 12, 801

&Aminolevulinate synthase, see 5-Aminolevulinate synthase 5-Aminolevulinate synthase

erythroid, assignment to Xp11.21 distal subregion by PCR analysis of somatic cell hybrids with X; autosome translocations (human), 13, 211

Amplicons malignant tumor-associated

at chromosome 11q13, analysis (human), 13, 21 11q13 region harboring, 14-Mb physical map (human), 13, 16

Amplification A l u - P C R , fluorescence in s i tu hybridization of YAC clones after,

13, 826 linear, labeling of pools of A lu element-mediated PCR probes by, in

identification of region-specific YACs, 14, 931 PCR

chromosome-specific DNA isolated from flow cytometry-sorted chromosomes (human), 12, 307

degenerate oligonucleotide-primed, target DNA, 13, 718 in fingerprinting human chromosomes, 14, 728 in identification of minisatellite alleles absent from Southern blot

profiles (human), 12, 116 mini- and microsatellite within 1.5 kb at muscle glycogen phos-

phorylase locus (human), 13, 7 multiplex, three microsatellites in CFTR gene (human), 13, 1362 polymorphic sites in Xq21.33-q24 region: DXS17, DXS87, and

DXS287 and a-galactosidase A (human), 13, 70 from somatic hybrid cell panel and chromosome-sorted DNA li-

braries, in mapping acetylcholinesterase gene to 7q22 (human), 13, 1192

yeast artificial chromosomes, 13, 1303 sequence-independent, microdissected chromosomal material,

methodology, 13, 1322 Amyloidosis

familial, Finnish type, gelsolin mutations Asn187, homozygosity, association with severe renal disease, 13,

902

AsplsT--~Asn (G654--~A), detection in all affected individuals by solid-phase minisequencing, 13, 237

G654 --~ A, identification in Finnish families and unrelated Ameri- can family, 13, 898

Aneuploidy chromosome 2 in sperm, frequency: application of chromosome-

specific a-satellite DNA (human), 13, 122 escape from detection at interphase by FISH technique, role of vari-

ations in alphoid DNA sequences (human), 14, 113 Angelman syndrome

and Prader-Willi syndrome, distinguishing by DNA methylation imprint determined by sex of parent, 13, 917

Angiogenin gene assignment to chromosome 14 with rapid PCR-RFLP map-

ping technique (mouse), 12, 177 Angiotensinogen

gene assignment to chromosome 19 (rat), 12, 350 Aniridia

autosomal dominant, associated loci AN1 and AN2, resolution to single locus on 11p13 (human), 13, 925

encoding gene, murine homolog, cloning and characterization (human), 13, 251

Annexin IV gene mapping to chromosome 2p13 (human), 12, 313

Antigens APO-1, gene mapping to 10q23: region syntenic with murine chro-

mosome 19 (human), 14, 179 bovine lymphocyte, encoding gene BoLA-DRB3, close linkage to

PRL gene: genetic distance estimate by single sperm typing (bovine), 13, 44

carcinoembryonic, gene family cluster on chromosome 19q, long-range physical mapping (hu-

man), 12, 761 identification of members and estimation of size (human), 14,

384 order and genomic distances among members, determination by

fluorescence in s i tu hybridization (human), 12, 773 pregnancy-specific glycoprotein subgroup, identification of new

members and family size estimation (human), 12, 780 CD30/Ki-1, gene assignment to lp36 (human), 14, 825 CD34, gene structure (human), 12, 788 epidermal, encoding gene, mapping near neurofibromatosis 1 gene

(human), 14, 369 Fas, gene assignment to 10q24.1 (human), 14, 821 human leukocyte, class I, gene contraction within H L A - A subre-

gion, analysis, 14, 1003 H-Y, deletion mapping to Y chromosome long arm (human), 13,

1255 transplantation, human and bovine cDNA homologs of murine

P198, comparison: conservation among mammalian species, 14, 959

trophoblast, related DNA sequence, regional localization to human chromosome 6q with somatic cell hybrids, 12, 693

Antithrombin III encoding gene, de novo splice site mutation causing recurrent ve-

nous thrombosis: exon skipping (human), 13, 1359 Apolipoproteins

apo A-I and apo AIV, encoding loci, linkage analysis (baboon), 14, 43

apo A-I and apo CIII, characterization: genomic, mRNA, and pro- rein sequences with comparisons to other species (mouse), 14, 1081

apo B, intron 20 Alu repeat, length and sequence variation (human), 14, 449

apo C-I, cDNA and gene structure and evolution (baboon), 13,368 apo C-II, encoding gene, allele frequency distribution of

(TG)n(AG) ~ microsatellite (human), 12, 63

1140 CUMULATIVE SUBJECT INDEX

apo D, gene localization on chromosome 16 (mouse), 12, 851 Aromatic-L-amino acid decarboxylase

localization to 7pl l and characterization of hepatic cDNAs (human), 13, 469

Arylsulfatase B, see N-Acetylgalactosamine-4-sulfatase Aspartylglucosaminuria

in Finland, associated mutant allele frequency, analysis with solid- phase minisequencing, 12, 590

Association studies VAPSE-based, for delineation of genetic predisposition to multifac-

torial disease, review, 12, 1 Ataxia

spinocerebellar type 1, locus on 6p, exclusion of linkage to Ma- chado-Joseph disease locus (human), 13, 852

ATPase Ca2+-transporting, isoform PMCA2, encoding A T P 2 B 2 gene, nu-

cleotide sequence and chromosomal localization (human), 14, 484

H+,K ÷- a-subunit gene, mapping to 19q13.1 by FISH technique (human),

14, 547 ~-subunit gene, mapping to 13q34 by FISH (human), 14, 1114

Atrophy spinal muscular, see Spinal muscular atrophy

Automation gridding for screening yeast and bacterial ordered libraries, tech-

nique development and application, 12, 534 Autosomes

amelogenin gene localization in monotremes and marsupials: implications for mammalian sex chromosome evolution, 14, 785

Backcross analysis interspecific, in mapping 13 genes on chromosome 18 (mouse), 13,

1143 in localization of bl ind-s ter i le gene on chromosome 2 in relation to

Hao-1 and E m v - 1 3 (mouse), 12, 403 Banding

chromosome, see Chromosome banding Base composition

genomes, structural model (Escher i ch ia coli, human), 13, 1056 Beckwith-Wiedemann syndrome

related gene sequences, 11p15.5-specific libraries for identification, 13, 1274

Biglycan encoding gene, fine mapping within Xq28 region with hybrid cell

panel (human), 13, 481 Biopsies

small, from lung cancer patients, chromosome 3p genotyping with PCR-based RFLP analysis, 12, 221

Blood groups ABO, genotypes, direct determination, application of allele-specific

PCR (human), 12, 670 Blots

gel, denaturing gradient, application in detection of high-frequency DNA polymorphisms in insulin receptor gene (human), 12, 705

Bone morphogenesis, associatedprotein subfamily, chromosomal localiza-

tion: BMPh, BMP6, and BMP7 genes (human), 14, 759 Brain, see also specif ic regions

expressed sequence tags, chromosomal assignment with fluorescent PCR products from hybrid cell panels (human), 14, 808

expression of rod photoreceptor cGMP phosphodiester fl-subunit gene (human), 13, 698

multiple cDNAs, chromosomal assignment (human), 12, 492 voltage-gated calcium channel, gene mapping to 12p13-pter (hu-

man), 14, 1092 Branchiootorenal syndrome

gene localization to chromosome 8q (human), 14, 841 Breakpoints

deletion, steroid sulfatase gene partial deletion, sequence analysis: detection of 3 bp homology (human), 13, 892

hybrid, localization in human 3p region, 14, 891 translocation, see Translocation breakpoints

Cadherins desmosomal, desmoglein subfamily member HDGC, gene DSG2 as-

signment to chromosome 18 (human), 13, 484 subclass M, encoding gene, mapping near E-cadherin locus on mu-

rine chromosome 8 and human 16q24.1-qter, 14, 488 Calcium channels

cardiac dihydropyridine-sensitive, a 1 subunit, gene linkage mapping to 12p13.2-pter with dinucleotide repeat (human), 14, 206

cerebral voltage-gated, encoding gene, mapping to 12p13-pter (human), 14, 1092

dihydropyridine-sensitive, a2 subunit CCHL2A, gene mapping to proximal chromosome 5 (mouse), 13, 1325

neuroendocrine/brain-type, ~1 subunit gene, assignment to 3p14.3 (human), 13, 1375

skeletal muscle dihydropyridine-sensitive, ql-subunit gene, mapping to chromosome 1 (mouse), 14, 1089

Calpactin I p l l light chain, cDNA sequence (human), 13, 866

Cancer, see Tumors Carbonyl reductase (NADPH)

encoding gene, linkage mapping on chromosome 21 with DNA polymorphism in 3' untranslated region (human), 13, 447

Carboxyl ester lipase encoding gene, and related gene, genomic organization, sequence

analysis, and chromosomal localization (human), 13, 630 Cha receptor

mapping to chromosome 19 (human), 13, 437 (CA) n repeat

large, detection in 16p region of divergence between subtelomeric alleles (human), 13, 81

Carnitine palmitoyltransferase gene mapping to l p13 -p l l by FISH (human), 13, 1372

fl-Casein mRNA, detection of exon skipping (human), 12, 13 regional localization to 4pter-q21 (human), 13, 225

Catechol methyltransferase gene mapping to 22q l l . l -~q l l . 2 (human), 12, 822

Cell adhesion molecules ICAM-1, encoding gene, characterization (mouse), 14, 1076 neural, see Neural cell adhesion molecule

Cell cycle growth arrest, specific gene Gas- l , mapping to chromosome 13

bands B3-C2 by in s i tu hybridization (mouse), 14, 548 related genes CDC25C and CCNB1, assignment to 5q31 and 5q12

(human), 13, 911 Cell fusion

and X irradiation, in generation of panel of somatic cell hybrids containing fragments of human chromosome 12p, 12, 206

Cell lines 293, human embryonic kidney, expression of feline arylsulfatase B

cDNA, 14, 403 expression of murine cyclin B1 mRNAs, 13, 1018


radiation/fusion hybrid, containing parts of human chromosome 10, characterization and application in mapping chromosome 10-specific probes, 13, 25

radiation-reduced hybrid, containing 5 Mb/17 cM human DNA from 9q34, creation, 13, 841

Centre d'Etude du Polymorphisme Humain consortium, produced human linkage maps

chromosome 2, 14, 1055 chromosome 15q, 14, 833

Centromere associated amplified long genomic sequence, identification in chro-

mosomes of wild and laboratory mice, 13, 1186 chromosome 2, chromosome-specific a-satellite DNA subset, isola-

tion and characterization (human), 13, 122 chromosome 15 interspecific linkage map positioned with respect

to, derivation (mouse), 13, 1075 chromosome 21, mapping of (GT), polymorphic marker D21S215

close to alphoid sequences (human), 13, 1365 -gene linkage mapping by PCR analysis of individual oocytes, de-

scription (mouse), 13, 713 Cerebellum

expressed cDNA clones, isolation, mapping, and characterization (human), 14, 813

CFTR, see Cystic fibrosis conductance transmembrane regulator Charcot-Marie-Tooth disease

clinical and genetic heterogeneity, 12, 155 Chemotactic receptors

C5AR, FPR, and FPR homolog orphan receptors FPRH1 and FPRH2, mapping to chromosome 19 (human), 13, 437

Cholesterol 7a-hydroxylase, see Cholesterol 7a-monooxygenase Cholesterol 7a-monooxygenase

encoding gene CYP7, cloning and localization to 8q11-q12 {human), 14, 153

Choline acetyltransferase partial gene sequence and potential control regions (human), 12,

412 Cholinergic receptors

muscarinic, m4, genetic linkage mapping (human), 13, 239 Chromatography

high-performance liquid, in identification and purification of overlapping cosmid clones in Xq24-qter region (human), 13, 1353

Chromosomal walking with sequence-tagged sites from end fragments of YAC inserts, in

mapping human chromosomes, 14, 241 Chromosome 1

CEBP and DBP genes, syntenic localization (rat), 13, 293 Charcot-Marie-Tooth disease CMT1B locus region, analysis for

linkage to CMT2 phenotype, 12, 155 Creb-1 gene mapping (mouse), 14, 790 heat-shock protein 90a gene HSPCAL1 localization (human), 12,

214 long-range repeat cluster, description: relationship to germline ho-

mogeneously staining region (Mus musculus), 12, 80 neuronal nicotinic acetylcholine receptor f12 subunit gene mapping

(human), 13,962 platelet-activating factor receptor gene localization (human), 13,

832 p region, PND/D1S47 and MYCL1 regions, exclusion from linkage

to familial melanoma locus in Australian pedigrees, 12, 18 p13-p11 region, localization of carnitine palmitoyltransferase gene

by FISH (human), 13, 1372 p21 region, assignment of glycogen debrancher gene (human), 13,

931 p36 region

CD30/Ki-1 gene assignment (human), 14, 825 p58 elk-1 protein kinase gene, structure and expression (human),

13, 613

p36.3-~p36.2 region, assignment of lysyl hydroxylase gene (human), 13, 62

proximal region CREB gene localization (mouse), 13, 974 microdissected genomic DNA probes to, identification and map-

ping (mouse), 14, 32 q region

distal, localization of (CA), repeat polymorphism for skeletal muscle a-actinin gene ACTN2 (human), 13, 1314

heat-shock gene localization: HSPA6 and HSPA7 (human), 12, 74

subtelomeric, in situ mapping of progesterone receptor gene (chicken), 13, 1343

q21.1 region, assignment of D5 dopamine receptor pseudogene 2 (human), 13, 968

q24-q32 region, assignment of cysteine-rich protein gene (human), 14, 391

q32 region, mapping of CD34 locus (human), 12, 788 q41-q43 region, in situ hybridization mapping of inositol 1,4,5-tris-

phosphate 3-kinase B gene (human), 14, 546 Shaw-related potassium channel gene Kv3.4 localization (human),

12, 190 skeletal muscle dihydropyridine-sensitive calcium channel al-sub-

unit gene mapping (mouse), 14, 1089 Chromosome 2

agouti locus region genes, radiation hybrid mapping panel for, 13, 731

blind-sterile gene, genetic localization in relation to Hao-1 and Emv- 13 (mouse), 12, 403

centromere, chromosome-specific a-satellite DNA subset, isolation and characterization (human), 13, 122

near centromere, mapping of nuclear retinoid X receptor a locus Rxra (mouse), 14, 611

centromeric region, mapping of murine H2 gene in region conserved between human and mouse, 14, 83

CEPH Consortium linkage map (human), 14, 1055 conserved regions in human and mouse, assignment of homeobox

gene DLX2/TES1 of Distal-less family, 13, 1157 DNA double-strand break repair gene XRCC5 assignment (human),

13, 1088 hepatocyte-enriched transcription factor loci Hnf-3b and Hnf-4,

mapping (mouse), 13, 264 murine, comparative mapping with

human chromosome 9q: gelsolin and dopamine fLhydroxylase genes, 12, 715

human chromosome 20: human PAX1 mapping to 20p11.2, 14, 740

pll.1-p11.2 region, assignment of D5 dopamine receptor pseudogene 1 (human), 13, 968

p13 region, mapping of annexin IV gene ANX4 (human), 12, 313 p16-p22 region, mapping of gene encoding cellular DNA binding

protein HTLF (human), 13, 658 p21-p23 region, mapping of Na+-Ca 2+ exchanger gene (human),

12, 616 q region

distal, physical map, localization oft(2;13) breakpoint of alveolar rhabdomyosarcoma (human), 13, 1150

ovalbumin gene in situ mapping close to centromere (chicken), 13, 1343

q13 band, mapping of FRA2B distinct from inverted telomere repeat arrays (human), 12, 833

q14-q21 band, mapping of interleukin-1 receptor antagonist gene IL1RN (human), 13, 654

q33 region, CTLA4 and CD28 Ig superfamily genes on, molecular linkage in YACs (human), 13, 856

q33-qter, microdissection: DNA library construction and clonal isolation (human), 13, 349


q34-q35 bands, assignment of long-chain acyl-CoA dehydrogenase gene (human), 11,609; erratum, 12, 626

q35 region, ass ignment of genes encoding interleukin-8 receptor types I and 2 and IL8 receptor pseudogene (human), 14, 685

q35-q37 region colocalization of type IV collagen a3 and a4 chain genes (human),

13 ,809 regional localization of convertase PC2 gene (mouse), 13, 1356

region-specific microdissection library from, construct ion and characterization (human), 14, 769

Chromosome 3 aldehyde dehydrogenase pseudogene assignment by PCR (human),

13, 465 Ca2+-pumping ATPase isoform PMCA2 gene localization (human),

14, 484 cen-p21.1 region, localization of three hybrid breakpoints and re-

f inement of 18 marker assignments (human), 14, 891 GM2 activator protein-related pseudogene, localization (human),

14, 796 high-resolution cytogenetic map: cosmid marker mapping by direct

R-banding FISH (human), 13, 1047 line 4 transgenic mice, insertional mutation-associated locus, geno-

mic structure, 13 ,159 peak assignment in s tandard bivariate flow karyotype (pig), 14, 357 p region

genetic linkage map of 96 loci (human), 13, 275 markers, ordering by radiation hybrid mapping (human), 13,705 potential zinc finger protein genes, assignment (human), 12, 254 recombination fraction between D3S2 and D3S3, measurement

with sperm typing (human), 12, 683 in small biopsies from lung cancer patients, genotyping with

PCR-based RFLP analysis, 12, 221 p12-q13.2 region, mapping of interleukin-12 p35 subunit gene (hu-

man), 14, 59 p14 region, detailed mapping around breakpoint of (3;8) transloca-

t ion in familial renal cell carcinoma and FRA3B (human), 14, 412

p14.3 region, assignment of gene encoding neuroendocrine/brain- type calcium channel al subunit (human), 13, 1375

p21 region, assignment of human G protein ai2 gene GNAI2, 12,125 p21.1 region, type VII collagen gene, PCR-based detection of exonic

polymorphisms (human), 14, 827 p21.1-p21.2, tandemly located H1 and H3 genes, colocation of mu-

rine homologs to 14A2-~C1 (human), 14, 83 p21-p22 region, zinc finger gene HF.10, structural and functional

organization (human), 12 ,720 p24-p26 region, mapping of interleukin-5 receptor a subunit gene

(human), 14, 755 q region

colony-st imulat ing factor 1 receptor and interleukin-5 genes, mapping (owl monkey), 13, 1174

genetic linkage map, mapping of liver/islet glucose t ransporter gene with (CA) n dinucleotide repeat polymorphism, 13, 495

Chromosome 4 bile acid UDP-glucuronosyltransferase gene localization by PCR

(human), 13, 908 C1--~C4 region, mapping of murine a-microglobulin/bikunin pre-

cursor gene in region conserved between human and mouse, 14, 83

CFTR gene localization: implications for evolution of mammalian chromosomes (rat), 14, 869

and chromosome 6, molecular mapping with flow-sorted Robert- sonian chromosome (mouse), 13, 761

GABA receptor rho 2 and rho 1 subunit genes, colocalization (mouse), 12, 801

genes, bovine homologs: synteny mapping (human), 14, 131 genetic and physical maps based on dinucleotide repeats (human),

14, 209

heat-shock protein 90a gene HSPCAL2 localization (human), 12, 214

HGF gene mapping (rat), 13, 293 Hunt ing ton disease gene region, radiat ion hybrid map spanning

(human), 13, 1040 p region, telomeric 60 kb, homology with telomeric regions on 13p,

15p, 21p, and 22p (human), 14, 350 p15.l-p15.3 region, localization of D5 dopamine receptor gene cen-

tromeric to Hunt ington 's disease locus (human), 12, 510 p16 region, mapping of rod photoreceptor cGMP phosphodiesterase

~-subunit gene PDEB homologous to murine rd gene (human), 12, 601

p16.1 region, assignment of functional D5 dopamine receptor gene (human), 13, 968

p16.3 Hunt ington disease region gene number estimation and identification of 13 transcripts, 13,

1108 mapping of rod photoreceptor cGMP phosphodiesterase fl-sub-

uni t gene PDEB close to, 12, 750 two loci separated by 3 Mb, and Hunt ing ton disease locus,

nonrandom association between, 13, 301 p16.3 region

and Hunt ington disease candidate region, sequence-tagged sites spanning, 13, 75

pter-q21 region, regional localization of j3-casein gene (human), 13, 225

q21.1-q24, mapping of NF-KB subunit gene NFKB1 to region associated with translocation in leukemia (human), 13, 287

q24 region, localization of N F K B 2 gene encoding NF-KB transcrip- t ion factor p50/p105 subunits (human), 14, 529

Chromosome 5 A2M, HOX3, INT1, KRAS2, and PAH loci, linkage relations: com-

parison with human chromosome 12, 14, 38 cerebellar cDNA mapping (human), 14, 813 distal, assignment of acetylcholinesterase gene (mouse), 14, 511 genes, bovine homologs: synteny mapping (human), 14, 126 GM2 activator protein functional gene localization (human), 14,796 murine, extensive linkage conservation with murine chromosome

18, 13, 1281 p region, homolog of human ZFY gene, localization: Zmax test for

statist ical analysis of in situ hybridizat ion data (wallaby), 12, 675

p15.3 region, mapping of dopamine t ransporter gene DAT1 (human), 14, 1104

proximal region, mapping of gene encoding dihydropyridine-sensitive calcium channel ~2 subunit CCHL2A (mouse), 13, 1325

q region chronic childhood-onset spinal muscular atrophy locus, close link-

age to D5S39 in French Canadian families, confirmation, 14, 188

distal GABA A receptor a l - subun i t gene mapping to, confirmation by

linkage analysis (human), 14, 745 radiation hybrid map of growth factor, growth factor receptor,

hormone receptor, and neurotransmit ter receptor genes (human), 13, 803

radiation hybrid map of 13 loci, 11,701; erratum, 14, 832 q12-q14 region, mapping of versican gene (human), 14, 845 q12 and q31 regions, assignment of cell cycle genes CCNB1 and

CDC25C (human), 13, 911 q13 region, spinal muscular atrophy locus, fine mapping to region

flanked by MAPIB and D5S6 (human), 13, 991 q23-q31 region, mapping of DNA repair gene HHR6B homologous

to yeast RAD6 (human), 12, 447 q31-q33 region, mapping of interleukin-12 p40 subunit gene (hu-

man), 14, 59 q34-q35 bands, localization of receptor-type tyrosine kinase gene

FLT4 (human), 13, 475


rod photoreceptor cGMP phosphodiesterase fl-subunit gene pdeb mapping (mouse), 12, 750

spinal muscular atrophy region, linkage analysis and fine mapping of defective gene to q12.2-q13 (human), 12, 335

Chromosome 6 Alu-PCR: characterization of chromosome 6-specific hybrid map-

ping panel and cloning of chromosome 6-specific markers (human), 12, 549

and chromosome 4, molecular mapping with flow-sorted Robert- sonian chromosome (mouse), 13, 761

and chromosome 8, locations on, exclusion in nonrhodopsin autosomal dominant retinitis pigmentosa families, 14, 191

collagen al(XII)-l ike gene localization (human), 14, 225 cystic fibrosis transmembrane conductance regulator gene mapping

(mouse), 13, 381 distal half, localization of interleukin-5 receptor gene with recombi-

nant inbred murine strains, 12, 855 80K-L protein gene mapping: major protein kinase C substrate (hu-

man), 14, 175 G protein gene encoding third ~-subunit, localization near Raf-1

(mouse), 12, 688 hematopoietic cell protein-tyrosine-phosphatase gene Hcph assign-

ment (mouse), 14, 793 high-mobility-group protein gene Hmgi-rs2 localization (murine

spp.), 12, 5O3 p region

autosomal dominant retinitis pigmentosa gene mapping, 11,870; erratum, 13, 1384

linked pedigree in autosomal dominant retinitis pigmentosa, identification of adRP mutation at peripherin/RDS locus, 14, 805

markers, linkage to Machado-Joseph disease locus: exclusion of MJD linkage to spinocerebellar ataxia SCA1 region (human), 13, 852

p11-p21.3 region around pepsinogen C gene, linkage map for, construction: PCR detection of PGC gene polymorphism (human), 14, 398

p21 region CCND3 gene mapping (human), 13, 575 cyclin D3 gene and pseudogene assignment (human), 13, 565

p21.3 region centromeric to MHC, testis-expressed zinc finger protein gene, close linkage to human homolog of t-complex gene tcp- l l , 14, 673

pulmonary surfactant protein gene Sftp-3 mapping (mouse), 12, 388

q region human homologs of murine t-complex genes, genetic mapping:

TCP10 mapping to 6q27 15 cM distal to TCP1 and PLG, 12, 826

MAS1 oncogene assignment, confirmation: murine homolog assignment to chromosome 17 (human), 13,487

North Carolina macular dystrophy locus assignment to, 13, 681

NotI linking probes assignment with somatic cell hybrid mapping panel (human), 12, 542

trophoblast antigen-related and other sequences, regional mapping with somatic cell hybrids, 12, 693

q12-q14 region, synteny between loci for FACIT-like collagen locus and al(IX) collagen (human), 13, 884

q14-q21 region, colocalization of GABA receptor subunit rh% and rho 1 genes (human), 12, 801

q21 region MARCKS protein gene mapping (human), 14, 168 region frequently deleted in malignant melanoma, specific geno-

mic clones, generation by chromosome microdissection (human), 14, 680

q22.3-q24 region, mapping of L-isoaspartyl/D-aspartyl protein methyltransferase gene (human), 14, 852

q23-q24 region, mapping of gene encoding HIV-1 enhancer binding protein HIV-EP2 (human), 12, 167

q25 region, sublocalization of superoxide dismutase gene (human), 14, 823

q25-qter region, microdissected bands containing, sequence-lnde- pendent amplification, 13, 1322

q27 region, mapping of human homolog of murine t-complex gene TCTE3, 13, 1337 thrombospondin II gene (human), 12, 421

syntenic localization of bone morphogenetic proteins genes BMP5 and BMP6 (human), 14, 759

Chromosome 7 albino-deletion complex

minimal region for alf/hsdr-1 within, definition with chromosome jumping from flanking markers (mouse), 14, 288

physical mapping for localization of neonatal survival locus al[/ hsdr-1, 14, 275

cAMP-dependent protein kinase regulatory subunit Rift and RIIfl genes, mapping (human), 14, 63

centromeric region, structure of DNA near long tandem arrays of alpha satellite DNA (human), 14, 912

furin gene regional localization (mouse), 13, 1356 hepatocyte-enriched transcription factor locus Hnf-3g, mapping

(mouse), 13, 264 hepatocyte growth factor gene localization (human), 12, 147 heterozygous deletion, implication in pathogenesis of familial leu-

kemia associated with monosomy 7 (human), 14, 121 HGF gene assignment, confirmation (human), 13, 293 homeobox gene Dbx genetic mapping (mouse), 14, 1107 insulin-like growth factor binding protein genes IGBP1 and IGBP3,

contiguous localization (human), 12,497 Ins-2 and tub genes, mapping to distinct regions (mouse), 14, 197 Mas-1 murine homolog of MAS1 oncogene, assignment, 13, 487 peak assignment in standard bivariate flow karyotype (pig), 14, 357 p region

2-cM genetic linkage map including 47 loci (human), 12, 326 glucokinase gene mapping using polymorphic (CA)n repeat ele-

ment as marker (human), 12, 319 p l l region, localization of dopa decarboxylase gene (human), 13,

469 p11-p13 region, oncomodulin gene localization: absence of linkage

to parvalbumin (human), 12, 567 p15 band, mapping of myc-like sequence MYCLK1 (human), 13,

449 p22 region, platelet-derived growth factor A chain gene assignment,

confirmation (human), 13, 257 pro-melanin-concentrating hormone gene PMCH assignment (rat),

12,846 q region, genetic linkage map, closure with centromere and telomere

polymorphisms (human), 14, 1041 q l l .2 region, localization of KRAB zinc finger gene ZNF117 (hu-

man), 14, 780 q21.1 band, regional mapping of hepatocyte growth factor/scatter

factor gene (human), 13,912 q22 region, mapping of acetylcholinesterase gene (human), 13,

1192 RLBP1 gene encoding cellular retinaldehyde-binding protein, as-

signment (mouse), 12, 58 T cell receptor/~ gene complex, identification of cluster of biallelic

polymorphic sequence-tagged sites (human), 12, 377 T cell receptor fl locus at 7q35, exclusion of linkage with hypokale-

mic periodic paralysis (human), 14, 493 Chromosome 8

centromere, assignment of potential zinc finger protein gene (human), 12, 254

and chromosome 6, locations on, exclusion in nonrhodopsin autosomal dominant retinitis pigmentosa families, 14, 191


cryptdin gene localization (mouse), 5, 233; erratum, 12, 626 dominant white color gene assignment closely linked to ALB and

PDGFRA (pig), 14, 965 individual hypervariable (cac)n/(gtg) n probes, localization (human),

13, 983 large repeat sequence element, species-specific, isolation and initial

characterization (mouse), 12, 517 linkage map based on short tandem repeat polymorphisms: effect of

genotyping errors (human), 14, 144 M-cadherin gene mapping near E-cadherin locus (mouse), 14, 488 neuronal nicotinic acetylcholine receptor a2 and/~3 subunit genes,

localization (human), 13, 962 p region, mapping of D8S133 locus with highly informative polymor-

phic complex dinucleotide repeat (human), 13, 232 proximal, mapping of motor neuron degeneration gene Mnd

(mouse), 13, 797 q region, localization of branchiootorenal syndrome gene (human),

14, 841 q l l - q l 2 region, localization of cholesterol 7a-hydroxylase gene

(human), 14, 153 q23.3-q24.11 region, microdissection: DNA library construction

and clonal isolation (human), 13, 349 RFLP markers, isolation and mapping (human), 13, 1261 specific alpha satellite DNA, sequence, higher order repeat struc-

ture, and long-range organization, 13, 585 Chromosome 9

al(XII) collagen gene localization (mouse), 14, 225 hepatocyte growth factor-like protein gene assignment (mouse),

13, 1368 individual hypervariable (cac),/(gtg) n probes, localization (human),

13, 983 microsatellite polymorphisms, linkage mapping (human), 12, 607 p region

deletions associated with human neoplasia, mapping of shortest region of overlap, 14, 437

interferon region, genetic and physical map (human), 14, 105 p23 region, assignment of T Y R P (brown) locus by nonradioactive in

situ hybridization (human), 13, 227 q region

genetic linkage map (human), 14, 715 GT polymorphism map, construction (human), 12, 229 human, and murine chromosome 2, comparative mapping, 12,

715 q21-~q22 region, assignment of al(XV) collagen gene COL15A1

(human), 14, 220 q32-q34 region, a-microglobulin/bikunin precursor gene, mapping

of murine homolog to 4C1-~C4 (human), 14, 83 q33-q34 region, assignment of a-l,3-galactosyltransferase gene

GGTA1 (human), 12, 613; erratum, 13, 493 q34 region, radiation-reduced hybrid cell line containing 5 Mb/17

cM human DNA from, creation, 13, 841 q34-q36 region, localization of single serine-pyruvate aminotrans-

ferase gene (rat), 13, 686 q34-qter region, assignment of carboxyl ester lipase gene and re-

lated gene (human), 13, 630 q34.2--~q34.3 region, mapping of collagen gene COL5A1 near nail-

patella syndrome locus (human), 12, 836

Chromosome 10 and chromosome 12, alpha satellite DNAs on, organization and

complexity (human), 13, 1125

DNA markers cloning and mapping with repeat element-mediated PCR (hu-

man), 13, 409 multiple, RFLP systems detected by, identification (human), 12,

401 D10S102 locus tightly linked to MEN2A gene, physical mapping

(human), 12, 394

human, linkage relationships with murine chromosome 19, 14, 26 MARCKS protein gene mapping (mouse), 14, 168 microsatellite polymorphisms, linkage mapping (human), 12, 604 NF-~B subunit gene NFKB2 mapping to region associated with

translocation in leukemia (human), 13, 287 nine polymorphic loci comprising single linkage group, genetic map:

linkage conservation with human chromosome 17 and murine chromosome 11 (rat), 14, 618

pericentromeric region cluster of expressed zinc finger protein genes (human), 13, 845 DNA markers, isolation and high-resolution mapping (human),

13, 601 high-resolution meiotic mapping panel for, construction (hu-

man), 13, 607 p11.2 region, localization of zinc finger protein Nil-2-a gene (hu-

man), 14, 194 p14-p15 region, H2 gene, mapping of murine homolog to centro-

meric chromosome 2 (human), 14, 83 prosaposin gene, structure and evolution (human), 13, 312 proximal q11.2, D10S94

detection of CpG island cluster near MEN2A locus (human), 13, 339

in MEN2A region, mcs94.1 gene identification and characterization (human), 13, 344

q11.2 region, D10S94 locus, additional RFLPs and development of PCR-based variant detection systems (human), 13, 233

ql l-q21 region, localization of nucleotide excision repair gene ERCC6 (human), 12, 745

q22 region syntenic with murine chromosome 10, mapping of perforin gene (human), 13, 1300

q22.1-q23, mapping of vinculin gene with complementary physical and genetic techniques (human), 13, 1347

q23 region syntenic with murine chromosome 19, mapping of human APO-1 gene, 14, 179

q23-q24 region, localization of interferon- and virus-inducible IFI- 56K and IFI-54K genes (human), 13, 458

q24 band, localization of kinesin-related gene by FISH (human), 13, 1371

q24.1 region, assignment of Fas antigen gene (human), 14, 821 q24.3 region, localization of CYP17 gene by FISH and simultaneous

chromosome banding (human), 14, 1110 radiation/fusion hybrids containing parts of, characterization and

application in mapping chromosome 10-specific probes (human), 13, 25

syntenic region, mapping of L-isoaspartyl/D-aspartyl protein methyltransferase gene (mouse), 14, 852

Chromosome 11 A5-B1 region, localization of receptor-type tyrosine kinase gene

FLT4 (mouse), 13, 475 anonymous Alu repeats, cloning and PCR-single-strand conforma-

tion polymorphism analysis (human), 12, 139 centromere, genetic linkage mapping of m4 muscarinic receptor

locus to vicinity (human), 13, 239

DNA markers 1001, excluding llp13-p15.5 region, isolation and sublocalization

with radiation-reduced somatic cell hybrids (human), 13, 1133

cosmid, 168, high-resolution cytogenetic map (human), 13, 129 /~2-glycoprotein gene mapping (mouse), 13, 1082 heat-shock protein 90a gene HSPCAL3 localization (human), 12,

214 high-mobility-group protein gene Hmgi-rsl localization (murine

spp.), 12, 503 human, including MEN1 locus, linkage relationships with murine

chromosome 19, 14, 26 individual hypervariable (cac),/(gtg), probes, localization (human),

13, 983


a- 1,3 -mannosyl-glycoprotein /~- 1,2 -N-acetylglucosaminyltransferase gene assignment close to interleukin-3 (mouse), 12, 699

murine, linkage conservation with rat chromosome 10 linkage group comprised of nine polymorphic loci, 14, 618

p region assignment of potential zinc finger protein genes (human), 12,

254 distal, mapping of D4 dopamine receptor close to HRAS (hu-

man), 13, 208 generation of ordered sets of cosmid DNA clones, description

(human), 13, 89 p13 region, single locus, resolution of autosomal dominant aniridia

loci AN1 and AN2 to, 13, 925 p13-p14 region, boundary, mapping of brain-derived neurotrophic

factor gene between FSHB and HVBS1 (human), 13, 1331 p15 region

deletions in malignant astrocytomas and primitive neuroectodermal tumors (human), 14, 799

identification of 57 conventional RFLP and 6 VNTR systems with DNA clones (human), 13, 1296

p15.5 region H-Ras cellular proto-oncogene locus, exclusion of linkage with

hypokalemic periodic paralysis (human), 14, 493 HRAS1 gene cluster, characterization (human), 14, 309 specific libraries for identification of Beckwith-Wiedemann syn-

drome and tumorigenesis genes, 13, 1274 proximal region, mapping of wobbler mutation (mouse), 13, 39 q region

cosmid linking clones, localization (human), 13, 134 linkage map, regional localization of highly polymorphic locus

DllS533 (human), 14, 820 linked zinc finger gene clusters, isolation and expression (hu-

man), 14, 970 Usher syndrome type I gene USH1B mapping (human), 14, 988

q13 region amplified region, analysis in malignant tumors (human), 13, 21 cyclin D1 gene and D2 pseudogene assignment (human), 13, 565 harboring MEN1 locus and tumor amplicon region, 14-Mb physi-

cal map (human), 13, 16 loci, mapping relative to regional chromosomal breakpoints (hu-

man), 12, 738 folate receptor genes, genomic organization (human), 14, 423 mitochondrial NADH:ubiquinone oxidoreductase 51-kDa sub-

unit gene mapping adjacent to glutathione S-transferase P1- 1 gene (human), 14, 1117

q13.1-q13.3 region, pepsinogen A locus YAC clone mapping by FISH with Alu-PCR-generated probes (human), 13, 726

q23 region, D~ dopamine receptor and NCAM genes on, structure and linkage (human), 14, 1010

q24-q25, localization of gene encoding tissue-specific DNA-binding protein RKB (human), 14, 270

second workshop, meeting report, 12, 620 TIMP-2 locus mapping by linkage analysis (mouse), 14, 828 transcobalamin I gene TCN1 mapping (human), 12, 459; erratum,

14, 208 Usher syndrome type I genes, localization (human), 14, 995

Chromosome 12 and chromosome 10, alpha satellite DNAs on, organization and

complexity (human), 13, 1125 hepatocyte-enriched transcription factor locus Hnf-3a mapping

(mouse), 13, 264 p region

distal, cardiac potassium channel gene KCNA1 localization (human), 12, 729

panel of somatic cell hybrids containing fragments of, generation by X irradiation and cell fusion, 12, 206

p12-p13 region, assignment of sequence related to human G protein ai2 gene GNAI2, 12, 125

p13 region CCND2 gene mapping (human), 13, 575 cyclin D2 gene assignment (human), 13, 565 SH2-containing tyrosine phosphatase gene mapping (human),

13, 869 TNFR1 gene localization (human), 13, 219; erratum, 13, 1384

pl3-pter region, mapping of cerebral voltage-gated calcium channel gene (human), 14, 1092

p13.2-pter, linkage mapping of cardiac dihydropyridine-sensitive Ca 2+ channel a 1 subunit gene with dinucleotide repeat (human), 14, 206

q region keratin 5 gene assignment near D12S14 by somatic cell hybrids

and multicolor in situ hybridization (human), 13, 452 pro-melanin-concentrating hormone gene P M C H assignment

(human), 12, 846 single-copy genes on, subregional mapping by FISH (human), 14,

775 q13.1 region, assignment of heterogeneous nuclear ribonucleopro-

tein core protein A1 gene by cDNA competitive in situ hybridization (human), 12, 171

q13-q14 region a2-macroglobulin receptor gene assignment (human), 13, 472 1.3-Mb region spanning GLI and LRP loci, physical map (hu-

man), 14, 117 Pi-class glutathione transferase sequence at, identification as re-

verse-transcribed pseudogene (human), 14, 470 q14-q15 region, assignment of a-l,3-galactosyltransferase gene

GGTAIP (human), 12, 613; erratum, 13, 493 ql4-qter region, localization of cerebral nitric-oxide synthase gene

(human), 14, 802 q23-q24.3 bands, localization of gene encoding ventricular myosin

regulatory light chain (human), 13, 829 q24.3 region, localization of UBC polyubiquitin gene (human), 12,

639 situs inversus viscerum gene determining left-right symmetry, du-

plication/deficiency mapping (mouse), 14, 643 TCF1 gene localization (human, rat), 13, 293

Chromosome 13 B3-C2 bands, mapping of growth arrest-specific gene Gas-1 by in

situ hybridization (mouse), 14, 548 and chromosome 21, a-satellite DNA sequences, discrimination

with PCR (human), 14, 515 convertase PC1 gene regional localization (mouse), 13, 1356 integrin al gene Vlal genetic mapping (mouse), 14, 503 p arm telomeric region, homology with 4p telomeric 60 kb (human),

14, 35O plasma carboxypeptidase B gene CPB2 assignment (human), 14,

549 polymorphic locus assignments, refinement by in situ hybridization

(human), 12, 852 q region, and 21q, pericentromeric regions, unique sequence homol-

ogy, 12, 158 q12-q14 region, mapping of cationic amino acid transporter gene

(human), 12, 430 q32 region, assignment of propionyl-CoA carboxylase a-chain gene

by in situ hybridization (human), 14, 550 q34 region, mapping of H+,K+-ATPase fl-subunit gene by FISH

(human), 14, 1114 fl satellite DNA subfamilies, characterization and localization (hu-

man), 12, 573 Chromosome 14

A2--~C1 region, mapping of murine H1 and H3 genes in region conserved between human and mouse, 14, 83

angiogenin gene assignment with rapid PCR-RFLP mapping technique (mouse), 12, 177

cardiac a-myosin heavy chain coding sequences, allelic differences among four strains (mouse), 13, 176


eosinophil ribonuclease 2 and 3 gene, localization (human), 13,240 heat-shock protein 90a gene HSPCAL4 localization (human), 12,

214 pulmonary surfactant protein genes Sftp-1 and Sftp-2, mapping

(mouse), 12, 388 q region

T cell receptor a chain locus, YAC-based identification of highly polymorphic CA repeat (human), 13, 820

Usher syndrome type I gene USHIA mapping (human), 14, 979 q11.l-q11.2, mapping of neural retina-specific leucine zipper gene

NRL (human), 14, 491 q13 region, localization of transcription factor inhibitor IKB/MAD-

3 gene NFKBI (human), 14, 529 q21.3-q22.2 region, assignment of recombination activating gene

RAG1 (human), 13, 488 /~ satellite DNA subfamilies, characterization and localization (hu-

man), 12,573 short tandem repeat polymorphisms, continuous linkage map (hu-

man), 13, 532 T cell receptor a gene complex and tRNA genes, identification of

clusters of biallelic polymorphic sequence-tagged sites (human), 12, 377

Chromosome 15 E band, assignment of interleukin-2 receptor ~ chain gene (mouse),

12,179 interspecific linkage map positioned with respect to centromere

(mouse), 13, 1075 limb-girdle muscular dystrophy linkage to, confirmation (human),

13, 1370 loci spanning, thirteen, gene order and genetic distance (mouse),

14, 417 a2-macroglobulin receptor gene assignment (mouse), 13, 472 microsatellites, mapping (human), 13, 903 neuronal nicotinic acetylcholine receptor a3, a5, and ~4 subunit

gene mapping (human), 13,962 NFl-related locus, identification (human), 13, 1316 p arm telomeric region, homology with 4p telomeric 60 kb (human),

14, 350 q region

cardiac muscle actin gene, regional localization (human), 13,904 CEPH Consortium linkage map, 14, 833

q l l - q l3 region, DNA methylation imprint determined by sex of parent, in distinguishing Angelman and Prader-Willi syndromes, 13, 917

q14-q21 region, in situ hybridization mapping of inositol 1,4,5-trisphosphate 3-kinase A gene (human), 14, 546

q24 region, localization of genes for neuronal nicotinic receptor subunits a3, as, and ~a (human), 12, 849

q26 region, assignment of RLBP1 gene encoding cellular retinaldehyde-binding protein (human), 12, 58

/3 satellite DNA subfamilies, characterization and localization (human), 12, 573

Chromosome 16 (AC) n microsatellite genetic markers, isolation and characterization

(human), 13, 402 apolipoprotein D gene localization (mouse), 12, 851 cerebellar cDNA mapping (human), 14, 813 cosmid contig physical map, evaluation (human), 13, 1031 high-resolution cytogenetic-based physical map (human), 13, 1178 p region, polycystic kidney disease gene PKD1, homologous region

on murine chromosome 17 (human), 13, 35 p13.3 region, PKD1 gene

fine genetic localization with physically mapped markers (human), 13, 152

localization to 750-kb CpG-rich region (human), 13, 144 pter region, region of divergence between subtelomeric alleles, de-

tection of large (CA)n repeat (human), 13, 81

specific repetitive DNA sequences, mapping to regions associated with breakage/rearrangement in leukemia cells (human), 13, 332

p12-p13.1, in situ mapping of gene coding for leucine zipper DNA- binding protein CDR62 (human), 13, 1340

p13,11-p12.3 region, localization of tt-crystallin gene (human), 14, 1116

q24.1-qter region, mapping of M-cadherin gene near E-cadherin locus (human), 14, 488

Chromosome 17 Charcot-Marie-Tooth disease CMT1A locus region, exclusion of

CMT2 locus from, 12, 155 2',3'-cyclic-nucleotide 3'-phosphohydrolase gene assignment (hu-

man), 13, 877 distal, mapping of nuclear retinoid X receptor ~/locus Rxrg (mouse),

14, 611 H-2 region, mapping of nuclear retinoid X receptor ~ locus Rxrb

(mouse), 14, 611 linkage conservation with rat chromosome 10 linkage group com-

prised of nine polymorphic loci (human), 14, 618 proximal p region, somatic cell hybrids, sequence-tagged sites, sim-

ple repeat polymorphisms, and YACs for mapping, 13, 551 proximal region, Mas proto-oncogene localization to region asso-

ciated with genomic imprinting (mouse), 13, 444; erratum, 14, 208

pter-p12 region, ~2-plasmin inhibitor gene assignment by PCR analysis of somatic cell hybrids (human), 13, 213

q11.2 region, neurofibromatosis type 1 gene region, YAC contig encompassing, 13, 672

qll.2-q24 region, evidence for localization of malignant hyperthermia susceptibility locus MHS2 (human), 14, 562

q12-q12.2 region, mapping of cytokeratin 13 gene (human), 14, 495 q23-q25 region, adult skeletal muscle sodium channel locus, exclu-

sion of linkage with hypokalemic periodic paralysis (human), 14, 493

q25 region, mapping of cellular DNA binding protein ILF, 13, 665 tissue inhibitor of metalloproteinases type 2 gene (human), 14,

782 region homologous to polycystic kidney disease gene region of hu-

man chromosome 16p, localization (mouse), 13, 35 specific DNA, isolated from flow cytometry-sorted chromosomes,

PCR amplification (human), 12, 307 t-complex region, localization of high-mobility-group protein gene

Hmgi (murine spp.), 12, 503 Tcp-lO gene family concerted evolution, implications for functional

basis of t haplotype transmission ratio distortion (mouse), 12, 35

Chromosome 18 conserved syntenic groups on, assignment of tyrosine-specific T-

cell phosphatase (human, mouse), 12, 151 desmoglein HDGC gene DSG2 assignment (human), 13, 484 genetic linkage map: evidence for extensive linkage conservation

with human chromosomes 5 and 18, 13, 1281 lysyl oxidase gene mapping (mouse), 14, 822 microsatellite markers covering, identification and localization (hu-

man), 14, 1095 multipoint genetic linkage map (mouse), 13, 1143 regional mapping, somatic cell hybrid panel for (human), 14, 431 somatic cell hybrid deletion map (human), 13, 1

Chromosome 19 C5a receptor, FMLP receptor, and FMLP receptor homologs

FPRH1 and FPRH2, assignments (human), 13, 437 eosinophil Charcot-Leyden crystal protein gene localization (hu-

man), 13, 240 FISH mapping with cosmid contigs (human), 14, 162


kallikrein locus, characterization (human), 14, 6 linkage group V assignment: single-strandconformation polymor-

phism analysis of somatic cell hybrids (rat), 12, 350 mapping of high percentage of C2-H 2 zinc finger motif sequences

localized on human chromosomes, 13, 999 myotonic dystrophy locus, radiation-reduced hybrids for mapping:

long-range restriction map (human), 13, 243 murine, linkage map: comparative mapping relationships with hu-

man chromosomes 10 and 11 including MEN1 locus, 14, 26 p region, localization of genes encoding MHC class II regulatory

factors RFX1 and RFX2 (human), 13, 1307 p region and qter region, assignment of potential zinc finger protein

genes (human), 12, 254 pregnancy-specific giycoprotein gene family, identification of new

members and family size estimation (human), 12, 780 q region, carcinoembryonic antigen gene family

cluster, long-range physical mapping (human), 12, 761 order and genomic distances among members, determination by

fluorescence in situ hybridization (human), 12, 773 q region, myotonic dystrophy area

cosmid and YAC contig containing markers tightly linked to DM locus, characterization, 13, 526

distal segment, physical and genetic characterization, 13, 509 proximal segment, physical mapping and cloning, 13, 518

q13.1 region CCAAT/enhancer binding protein C/EBPa gene CEBPA, map-

ping, and related CEBPB gene mapping to 20q13.1 (human), 14, 12

H+,K+-ATPase ~-subunit gene, mapping by FISH technique (human), 14, 547

RYR1 locus, physical mapping of microsatellite markers in vicinity and apparent exclusion of malignant hypertherma susceptibility locus, 14, 749

q13.2-13.3 region, assignment of DNA ligase I gene (human), 12, 164

q13.3-q13.4 region DNA polymerase 5 gene mapping by in situ hybridization (hu-

man), 14, 205 interleukin-ll gene localization (human), 13, 814

q13.4 region, assignment of slow skeletal troponin T gene with somatic cell hybrids and FISH (human), 13, 1374

sequences, specific tissue expression, cDNA surveying (human), 14, 263

Shaw-related potassium channel gene Kv3.3 localization (human), 12, 190

syntenic localization of CEBP and DBP genes (human), 13, 293

Chromosome 20 bone morphogenetic protein BMP7 localization: synteny with

BMP2 (human), 14, 759 genetic linkage map composed entirely of microsatellite markers

(human), 12, 183 markers, physical mapping with somatic cell hybrid cell lines and

FISH (human), 14, 532 neuronal nicotinic acetylcholine receptor a4 subunit gene mapping

(human), 13, 962 PLC1 locus-associated microsatellite, identification, mapping, and

linkage to MODY locus (human), 13, 560 p region, assignment of potential zinc finger protein genes {human),

12, 254 p11.2 region, mapping of developmental control gene PAXl by in

situ hybridization (human), 14, 740 pl2-pter region, assignment of receptor-linked protein-tyrosine-

phosphatase gene by in situ hybridization (human), 13, 906 q region, localization of gene for human low-voltage electroencepha-

logram variant: evidence for genetic heterogeneity, 12, 69 q13.1 region, mapping of nuclear factor NF-IL6 gene CEBPB: map-

ping of related CEBPA to 19q13.1 (human), 14, 12

Chromosome 21 AML ! gene linkage mapping with DNA polymorphism in 3' un-

translated region (human), 14, 506 carbonyl reductase gene linkage mapping with DNA polymorphism

in 3' untranslated region (human), 13, 447 and chromosome 13, a-satellite DNA sequences, discrimination

with PCR (human), 14, 515 dinucleotide repeat (GT) n markers, identification (human), 14, 818 DNA markers

gene-dosage mapping (human), 13, 887 set of 14, ordering based on radiation hybrid data, 13, 95

duplication in somatic cells monosomic for chromosome 21, role in uniparental isodisomy (human), 13, 269

(GT)~ polymorphic marker D21S215 mapping close to centromeric alphoid sequences (human), 13, 1365

human, evolution, evidence from in situ hybridization in marsupials and monotreme, 13, 1119

p arm telomeric region, homology with 4p telomeric 60 kb (human), 14, 350

polymorphic tetranucleotide (TAAA). repeats, cloning and linkage mapping (human), 14, 1071

q region D21Sl12 marker, characterization of VNTR systems (human),

14, 816 potential zinc finger protein genes, assignment (human), 12,254 and 13q, pericentromeric regions, unique sequence homology, 12,

158 YAC contig encompassing D21S13/16 region, construction:

methods of walking, cloning, and mapping (human), 12, 42 q22.3 region, mapping of human spasmolytic protein gene: physical

linkage to homologous breast cancer marker gene BCEI/pS2 (human), 13, 1328

satellite DNA subfamilies, characterization and localization (human), 12, 573

sequence-tagged sites for set of mapped markers on chromosome 21 (human), 14, 498 specific markers, generation (human), 14, 185

specific DNA, isolated from flow cytometry-sorted chromosomes, PCR amplification (human), 12, 307

trisomy, escape from detection at interphase by FISH technique, role of variations in alphoid DNA sequences (human), 14, 113

YAC library containing 1.5 equivalents of, construction and characterization (human), 14, 481

Chromosome 22 flow-sorted, NotI fragment, clone libraries specific to, construction

with shotgun PCR, 13, 109 individual hypervariable (cac)n/(gtg) . probes, localization (human),

13, 983 neurofibromatosis type 2 locus region , radiation hybrid map (hu-

man), 14, 574 p region

and qll .2 region, zinc finger genes, identification (human), 13, 641

telomeric, homology with 4p telomeric 60 kb (human), 14, 350 ql l . l -~ql l .2 , mapping of catechol-O~methyltransferase gene (hu-

man), 12, 822 qll .2 region, assignment of stromelysin 3 gene (human), 13, 881 q12-q13.1 region, parvalbumin gene localization: absence of linkage

to oncomodulin (human), 12, 567 satellite DNA subfamilies, characterization and localization (hu-

man), 12, 573 specific library, differential Alu-PCR hybridization on, in rapid iso-

lation of cosmids from defined subregions (human), 13, 395 specific sequence-tagged sites, panel (human), 14, 1098

Chromosome 23 assignment of genes encoding prolactin-related proteins and pla-

cental lactogen (bovine), 14, 137


Chromosome A1 localization of arylsulfatase B gene (cat), 14, 403

Chromosome banding simultaneous, iwth FISH, in localization of human CYP17 gene to

10q24.3, 14, 1110 Chromosome jumping

from flanking markers, in definition of minimal region for alf/hsdr- 1 within albino-deletion complex (mouse), 14, 288

Chromosome walking with YACs: contig encompassing D21S13 and D21S16 (human),

12, 42 Chromosome X

A-raf-1, properdin, synapsin I, and TIMP genes, physical linkage (human, mouse), 12, 632

and chromosome Y p region, mapping of X-Y homologous gene amelogenin: high de-

gree of conservation in primates, 14, 203 primate, evolution of DNA sequence homologies between, 14,

1032 CSNB 1 locus encoding X-linked congenital stationary night blind-

ness, linkage analysis (human), 14, 99 dinucleotide repeat loci DXS453, DXS454, DXS458, and DXS424,

genetic mapping with multiplex PCR (human), 13, 375 dystrophin gene, 2.6-Mb YAC contig spanning, construction with

STS-based approach (human), 12, 474 evolution, implications of autosomal localization of amelogenin

gene in monotremes and marsupials, 14, 785 flow-sorted library, cosmid clones isolated from, mapping by FISH

technique, 14, 542 FMR1 gene implicated in fragile X-linked mental retardation, map-

ping (mouse), 12, 818 human, linked genes, mapping in phalangerid marsupial Tricho-

surus vulpecula, 14, 302 hypervariable DXS255 locus, detection of LINE-1 repeat with CpG

island extensively methlated only on active X chromosome (human), 14, 598

inactivation, see X-inactivation incontinentia pigment 1 locus-associated translocation break-

points, DNA markers in vicinity, isolation by comparative radiation hybrid PCR analysis, 14, 649

linked amelogenesis imperfecta, associated genetic heterogeneity (human), 14, 567

mapping by walking with sequence-tagged sites from end fragments of YAC inserts (human), 14, 241

monoamine oxidase genes, Organization and long-range physical mapping of associated region (human), 14, 75

murine genetic mapping of human cDNA clones for fragile X and Hunter

syndromes, 12, 814 physical map extension in region homologous to human Xq28

and identification of exception to conserved linkage, 13, 1289

peak assignment in standard bivariate flow karyotype (pig), 14, 357 p region

distal, 14 isolated DNA markers, physical mapping (human), 13, 167

DNA, irradiation hybrids with, Alu-PCR-based characterization and generation of Xp21.3-p22.2 markers from, 12, 368

proximal, spanning incontinentia pigmenti 1 translocation breakpoints, radiation hybrid map (human), 14, 657

X-linked congenital stationary night blindness locus mapping proximal to DXS7 (human), 12, 409

pll.2-q13 region between DXS255 and DXS566, mapping of Aars- kog syndrome gene (human), 14, 298

p11.21 region, distal subregion, assignment of erythroid 5-aminolevulinate synthase (human), 13,211

p21 region

Duchenne muscular dystrophy gene, YAC contig containing, construction (human), 12, 465

markers between DXS28 (C7) and DMD, identification (human), 13, 957

p21.3 region, DNA marker ordering by in situ fluorescence hybridization: cen-DXS28(C7)-DXS67(B24)-DXS68(L1)-tel (human), 13, 455

p22.3 region, steroid sulfatase gene, isolation and characterization of surrounding YAC contig (human), 12, 7

pseudoautosomal region, localization of GM-CSF receptor a chain gene CSF2RA (human), 14, 455

pter-q27.3 region, YAC library for, construction and characterization: systematic analysis of cocloning rate and coverage (human), 12, 526

q region, exchange with chromosome 16p: large (CA) n repeat in 16p region of divergence between subtelomeric alleles (human), 13, 81

q13 region, fine mapping and cloning of breakpoint associated with Menkes syndrome in female patient, 14, 557

q13.1 region breakpoints of two X/A translocations in hypohidrotic ectoder-

mal dysplasia female patients, gene mapping around, 14, 523 refined localization of connexin32 gene locus GJB1 (human), 13,

479 q21.33-q24 region, polymorphic sites, amplification: DXS17,

DXS87, and DXS287 and a-galactosidase A (human), 13, 70 q22-q23 region, a5(IV) collagen chain gene, long-range mapping

(human), 12, 130 q24-q25 region, mapping of DNA repair gene HHR6A homologous

to yeast RAD6 (human), 12, 447 q24-q28, moderately repetitive sequences pTR5 and LF1, distribu-

tion and application to YAC contig assembly (human), 12, 264

q24-qter region overlapping cosmid clones, chromatographic identification and

purification (human), 13, 1353 YACs from, PCR amplification and analysis, 13, 1303

q26 region, mapping of gene for X-linked form of hyper-IgM syndrome by close linkage

to HPRT (human), 14, 551 zinc finger motif ZNF75 (human), 13, 1231

q28 region biglycan gene fine mapping with hybrid cell panel (human), 13,

481 nephrogenic diabetes insipidus and vasopressin type 2 receptor

genes, colocalization (human), 13, 1350 proximal, highly polymorphic locus DXS455, isolation and char-

acterization (human), 12, 710 X-linked hydrocephalus gene mapping distal to DXS52 (human),

14, 508 Rps4 gene inactivation (mouse), 11, 1097; erratum, 13, 915 steroid sulfatase gene partial deletion, sequence analysis: 3 bp ho-

mology at deletion breakpoints (human), 13,892 YAC contig spanning defined region, construction with random se-

quence-tagged site strategy (human), 14, 256 Chromosome Y

and chromosome X p region, mapping of X-Y homologous gene amelogenin: high de-

gree of conservation in primates, 14, 203 primate, evolution of DNA sequence homologies between, 14,

1032 evolution, implications of autosomal localization of amelogenin

gene in monotremes and marsupials, 14, 785 family of DNA repeats, sequences from, analysis (bovine), 13, 1267 peak assignment in standard bivariate flow karyotype (pig), 14,357 pseudoautosomal region, localization of GM-CSF receptor a chain

gene CSF2RA (human), 14, 455


q region exchange with chromosome 16p: large (CA), repeat in 16p region

of divergence between subtelomeric alleles (human), 13, 81 H-Y antigen localization by deletion mapping (human), 13, 1255

specific DNA sequence, moderately repeated, evolutionary conservation in great apes (human), 13, 363

Sry gene nucleotide sequence differences (Mus musculus musculus, M. m. domesticus), 13, 236

S R Y nonsense mutation associated with XY sex reversal (human), 13, 838

Sxr region, structural analysis (mouse), 12, 26 X-homologous sequence, detection by DXS89 (human), 14, 554

Chromosomes acrocentic, see Acrocentric chromosomes banded, physical mapping of cloned DNA by fluorescence in situ

hybridization (mouse), 12, 106 brain cDNAs, assignment (human), 12, 492 brain-expressed sequence tags, assignment with fluorescent PCR

products from hybrid cell panels (human), 14, 808 cDNA clones from subtracted retinal pigment epithelium library,

localization (human), 13, 873 centromeric regions, amplified long genomic sequence in, identifi-

cation in wild and laboratory murine strains, 13, 1186 Cs-H 2 zinc finger motif sequences, mapping: clustering within telo-

meric and fragile site regions (human), 13, 999 cyclin A gene and multiple cyclin Bl-related sequences, localization

(mouse), 13, 415 cyclin Bl-related genomic sequences, mapping (mouse), 13, 1018 fingerprinting by PCR-mediated DNA amplification (human), 14,

728 highly informative simple sequence repeat polymorphisms, assign-

ment (human), 13, 622 human YAC clones, mapping by FISH technique: single-yeast col-

ony PCR and multiple labeling, 14, 181 intron-containing ribosomal protein genes, mapping: no linkage de-

tection (human), 13, 201 mapping by walking with sequence-tagged sites from end fragments

of YAC inserts (human), 14, 241 marker, fluorescent in situ identification with flow sorting and Alu

element-mediated PCR, 13, 355 phalangerid marsupial Trichosurus vulpecula, mapping of human

X-linked genes, 14, 302 Robertsonian, 4:6 flow-sorted, in molecular mapping of chromo-

somes 4 and 6 (mouse), 13, 761 in somatic cell hybrids, LTR banding profiles of human endogenous

retrovirus HERV-A, 13, 461 specific, DictyosteUum discoideum, physical mapping of genes to,

13, 49 structural genes and related DNA fragments, assignment by South-

ern blot analysis of rat×mouse somatic cell hybrid clones (rat), 12, 659

yeast artificial, see Yeast artificial chromosomes

Chylomicronemia in patients of different ancestries, identification of lipoprotein li-

pase gene exon 6 Asp25°-~Asn missense mutation as cause, 13, 649

Clonality M27B probe studies, significance of methylation at 5' CCGG

DXS255 locus by factors other than X-inactivation (human), 14, 70

Cloning in bacteriophage vector, in isolation of chromosome 11 markers:

1001 markers excluding 11p13-p15.5 region (human), 13, 1133

breakpoint associated with Menkes syndrome in female patient, 14, 557

cardiac potassium channel gene KCNA1 (human), 12, 729

cDNA with similarity to conserved region of collagenase gene family (human), 12, 175

cholesterol 7a-hydroxylase gene (human), 14, 153 chromosome 10 DNA markers with repeat element-mediated PCR

(human), 13, 409 cross-species, sulfatase gene family, application of PCR with MO-

PAC technique (human, mouse), 12, 755 cyclin D genes CCND2 and CCND3 (human), 13, 575 from DNA libraries of chromosomal regions 8q23.3-q24.11 and

2q33-qter (human), 13, 349 fl2-glycoprotein I cDNA, and gene mapping to chromosome 11

(mouse), 13, 1082 HOX4E homeobox gene (human), 13, 425 interleukin-6 signal transducing molecule gpl30 cDNA (rat liver),

14, 666 long-chain acyl-CoA dehydrogenase cDNA (human), 11,609; erra-

tum, 12, 626 lysyl hydroxylase cDNA (human), 13, 62 a- 1,3-mannosyl-glycoprotein ~- 1,2-N-acetylglucosaminyltransfer-

ase gene (mouse), 12, 699 MARCKS protein cDNA: major protein kinase C substrate 80K-L

(human), 14, 175 murine Small eye homolog of human aniridia cDNA, 13, 251 myotonic dystrophy gene region proximal segment, 13, 518 and PCR-single-strand conformation polymorphism analysis, anon-

ymous AIu repeats on chromosome 11 (human), 12, 139 polymorphic tetranucleotide (TAAA) n repeats on chromosome 21

(human), 14, 1071 prothymosin a gene family members (human), 13, 319 YAC

contig encompassing D21S13 and D21S16 (human), 12, 42 putative G protein mapping to MHC class I region (human), 14,

857 telomeric DNA fragments (Plasmodium falciparum), 14, 332

zinc finger genes mapping to short and long arms of acrocentric chromosome 22 (human), 13, 641

ZP3 gene (human), 14, 1064

Cocloning rate in YAC library for human Xpter-Xq27.3, systematic determina-

tion, 12, 526

Collagen FACIT-like collagen locus and al{IX) collagen gene on human

6q12-q14, synteny between, 13, 884 type I, murine precursor proa2(I) collagen, cDNA-derived amino

acid sequence, comparison with human proa2(I) collagen, 13, 1345

type IV a3 and a4 chain genes, colocalization to chromosome 2 bands

q35-q37 (human), 13, 809 a5 chain gene at Xq22

DNA rearrangements in Alport syndrome individuals: refinement with pulsed-field gel electrophoresis, 14, 624

long-range mapping (human), 12, 130 YAC contig encompassing, construction, 14, 634

type V, gene COL5A1, mapping to 9q34.2-~q34.3 near nail-patella syndrome locus (human), 12, 836

type VII, encoding gene at 3p21.1, PCR-based detection of two exonic polymorphisms (human), 14, 827

type XII a l and al(XII)-like, gene mapping to murine chromosome 9 and human chromosome 6 respectively, 14, 225

type XV, a l chain gene, assignment to 9q21--~q22 (human), 14, 220 Collagenase

gene family, conserved region, cDNA with similarity to, cloning and characterization (human), 12, 175

Colony-stimulating factor receptors CSF1R, gene mapping to proximal 3q (owl monkey), 13, 1174

1 1 5 0 CUMULATIVE SUBJECT INDEX

Colony-stimulating factors granulocyte-macrophage, receptors, see Granulocyte-macrophage

colony-stimulating factor receptors

Complement component C3, encoding gene C3, linkage heterogeneity with LDLR

(baboon), 14, 43 Computer programs

CHROMLOOK: interactive program for error detection and mapping in reference linkage data, 14, 517

for contig assembly, based on sensitive detection of fragment overlaps, development, 14, 18

CPROP, rule-based, for construction of genetic maps, 12, 435

Computer search similarity-based, in identification of coding exons: Alu-derived and

other potentially misleading protein sequences, 12, 838

Computer simulations linkage analysis data: systematic detection of errors, 14, 604

Connexins connexin32 gene locus GJB1, refined localization to Xq13.1 (hu-

man), 13, 479 Contigs

assembly program based on sensitive detection of fragment overlaps, 14, 18

cosmid in characterization of distal segment of 19q myotonic dystrophy

area, 13, 509 derived physical map of chromosome 16, evaluation (human), 13,

1031 formed by random restr ict ion enzyme fingerprinting, in FISH

mapping of chromosome 19 (human), 14, 162 generation from human chromosome region l l p , 13, 89

cosmid and YAC, containing markers tightly linked to myotonic dystrophy locus on chromosome 19, characterization, 13,526

YAC assembly using moderately repetitive sequences pTR5 and LF1 in

human Xq24-q28 DNA (human), 12, 264 with complete Duchenne muscular dystrophy gene, construction

(human), 12, 465 D21S13- and D21S16-encompassing, construction (human), 12,

42 human a5(IV) collagen gene-encompassing, construction, 14,

634 human steroid sulfatase gene-encompassing, isolation and charac-

terization, 12, 7 1.2-Mb, spanning iduronate sulfatase gene, isolation: identifica-

t ion of heterogeneous deletions in Hun te r syndrome patients, 12, 52

spanning defined chromosomal regions, construction with random sequence-tagged site strategy (human), 14, 256

2.6-Mb, spanning human dystrophin gene, construct ion with STS-based approach, 12, 474

type 1 neurofibromatosis gene-encompassing, construction (human), 13, 672

Convertase PC1, PC2, and furin, encoding genes, regional localization on mu-

rine chromosomes, 13, 1356

Cosmids clones isolated from flow-sorted human X chromosome library,

mapping by FISH technique, 14, 542

contigs based physical map of chromosome 16, evaluation (human), 13,

1031

formed by random restr ict ion enzyme fingerprinting, in FISH mapping of chromosome 19 (human), 14, 162

with markers tightly linked to myotonic dystrophy locus on chromosome 19, characterization, 13, 526

DNA, ordered sets of clones, generation from human chromosome region 11p, 13, 89

linking clones, localization to chromosome 11q (human), 13, 134 168 markers for chromosome 11, high-resolution cytogenetic map

(human), 13, 129 ordered libraries, automated gridding for screening, development

and application, 12, 534 overlapping clones in Xq24-qter region, chromatographic identifi-

cation and purification (human), 13, 1353 rapid isolation from defined subregions by differential Alu-PCR hy-

bridization on chromosome 22-specific library (human), 13, 395

291 markers, mapping on chromosome 3 by direct R-banding FISH (human), 13, 1047

CpG islands clusters

chromosome 16p13.3 750-kb region rich in, localization of gene for autosomal dominant polycystic kidney disease (human), 13, 144

detection at D10S94 near locus for multiple endocrine neoplasia type 2A (human), 13, 339

extensively methlated only on active X chromosome, LINE-1 repeat with, detection in hypervariable DXS255 locus (human), 14, 598

as gene markers in human genome, evaluation, 13, 1095 in intron 22 of human factor VIII gene, second transcript originat-

ing from, transcript ion in same direction as factor VIII, 14, 585

Creatine kinase B isoform, gene locus and related pseudogenes, genetic variability in

inbred strains of mice, 12, 340 Crossing over

meiotic, within murine Eb recombination hot spot, role of nucleotide sequence identity, 13, 1334

Cryptdin gene localization on chromosome 8 (mouse), 5, 233; erratum, 12,

626 locus Defcr, linkage to defensin-related gene Defcr-rsl (mouse), 14,

363 #-Crystallin

gene localization to 16p (human), 14, 1116 3',5'-Cyclic-GMP phosphodiesterase

rod photoreceptor a-, 8-, and ~-subunit genes, syntenic assignments (bovine), 14,

699 f~-subunit gene

homologous to murine rd gene, assignment to human chromosome 4p16, 12, 601

mapping to routine chromosome 5 and human 4p16.3 close to Hunt ington disease region, 12, 750

retinal cDNA sequence and expression in brain (human), 13, 698

2',3'-Cyclic -nucleotide 3'-phosphodiesterase gene assignment to chromosome 17 (human), 13, 877

2',3'-Cyclic-nucleotide 3'-phosphohydrolase, see 2',3'-Cyclic-nucleotide 3'-phosphodiesterase

Cyclins A and B1, related genes, dispersal in murine genome: single cyclin A

gene and multiple cyclin Bl- re la ted sequences, 13, 415 B1, mRNAs, expression and genetic mapping of related genomic

sequences (mouse), 13, 1018 D, encoding genes

CCND2 and CCND3, molecular cloning and chromosomal mapping (human), 13, 575

genomic organization, chromosomal localization, and independent expression (human), 13, 565


Cystic fibrosis gene coding region, detection of 22-bp deletion, 13, 235 gene mutat ions

caused by single base substitution, detection as heteroduplex polymorphism (human), 12, 301

identification by analysis of CFTR coding regions and splice site junctions (human). 13, 770

Cystic fibrosis conductance t ransmembrane regulator encoding gene

coding regions and splice site junctions, analysis for identifica- t ion of CF mutat ions {human). 13, 770

expression and chromosomal localization (mouse), 13, 381 identification of frameshift mutat ion in exon 4 {human), 12 ,854 localization to chromosome 4: implications for evolution of mam-

malian chromosomes (rat), 14, 869 microsatell i tes within, multiplex PCR amplification {human),

13, 1362 mutat ion in exon 7, detection in Southern French adult with cys-

tic fibrosis, 13. 907 nonsense and splicing mutat ions in exon 19 (human), 12, 417

Cytochrome P450 highly polymorphic gene cluster, evolution: CYP2D6 (human), 14,

49 Cytochrome P45017 .

encoding gene CYP17, localization to 10q24.3 by FISH and simultaneous chromosome banding (human), 14, 1110

Cytogenetic map chromosome 19, construction by FISH technique with cosmid con-

tigs {human), 14, 162 high-resolution

chromosome 3: cosmid marker mapping by direct R-banding FISH {human), 13, 1047

chromosome 11:168 cosmid DNA markers (human). 13, 129 Cytogenetics

molecular, chromosome 2 centromeric region, application of chromosome-specific a-satelli te DNA (human), 13, 122

Cytokeratin type 13, encoding gene, chromosomal mapping (human), 14, 495

D

Data analysis maximum likelihood estimation, based method for systematic de-

tection of errors in genetic linkage data, 14, 604 Data bases

generation of ordered sets of cosmid DNA clones from human chromosome region l lp , 13, 89

Deafness associated murine muta t ion shaker-i, close linkage to olfactory

marker protein gene, 13. 189 Defensins

related CRSIC gene, expression in P a n e t h cells and linkage to cryptdin locus Defcr (mouse), 14, 363

Deletion mapping H-Y antigen to Y chromosome long arm (human), 13, 1255

Deletions associated 6q21 region in mal ignant melanoma, genomic clones

from, generation by chromosome microdissection {human), 14, 680

in CFTR gene exon 7, detection in Southern French adult with cystic fibrosis, 13, 907

chromosome 9 short arm, associated with human neoplasia, mapping of shortest region of overlap, 14, 437

chromosome 11p15, in malignant astrocytomas and primitive neuroectodermal tumors, analysis (human), 14, 799

in chromosome 18, somatic cell hybrids with. in construction of physical map (human), 1 3 . 1

detection in Hunter syndrome patients, 13, 543

dystrophin gene region prone to, involvement of transposon-like element, 13, 594

heterozygous chromosome 7, implication in pathogenesis of familial leukemia

associated with monosomy 7 {human), 14, 121 4-bp, identification in G~a gene in Albright hereditary osteodys-

t rophy patient, 13. 1319 in hypoxanth ine phosphoribosyl t ransferase gene, nucleotide se-

quence analysis in Werner syndrome fibroblasts and HL60 cells, 13, 777

in iduronate sulfatase gene, identification in Hunter syndrome patients, 12, 52

partial, steroid sulfatase gene, breakpoints, sequence analysis: detection of 3 bp homology {human), 13, 892

22-bp, detection in cystic fibrosis gene coding region, 13, 235 Deoxyuridine 5'-triphosphate

-fluorescein, in FISSH detection and characterization of chimeric YAC clones (human), 14. 536

Desmogleins HDGC, encoding gene DSG2, assignment to chromosome 18 (hu-

man), 13, 484 DHP, see Dihydropyridine Diabetes

maturity-onset, of young, chromosome 20 locus, identification and mapping of linked microsatellite associated with PLC 1 locus, 13, 560

non-insulin-dependent, candidate gene GCK, mapping to chromosome 7p using polymorphic (CA) n repeat element as marker, 12 ,319

Diagnostic assays for probable causal mutat ion for human and porcine malignant hy-

perthermia, refinement, 13, 835 Dictyostelium discoideum

specific chromosomes, physical mapping of genes to, 13, 49 Dinucleotide repeats

associated with phospholipase C locus on chromosome 20, identification, mapping, and linkage to MODY locus (human), 13, 560

based chromosome 4 genetic and physical maps (human). 14, 209 (CA)., for skeletal muscle a-act inin gene ACTN2, localization on

chromosome 1 linkage map (human), 13, 1314 GT, highly polymorphic region-containing, near first exon of mono-

amine oxidase gene, characterization (human), 13, 896 (GT)~, markers

on chromosome 21, identification (human), 14, 818 D21S215, mapping on chromosome 21 close to centromeric al-

phoid sequences {human), 13, 1365 highly informative polymorphic, in linkage mapping D8S133 locus

to chromosome 8p (human), 13, 232 in linkage mapping of cardiac dihydropyridine-sensitive Ca 2+ chan-

nel a~ subunit gene with dinucleotide repeat (human), 14, 206

X chromosome loci DXS453, DXS454, DXS458, and DXS424, genetic mapping with multiplex PCR (human), 13, 375

Dinucleotides AG, invariant, at ~-thalassemia gene IVS-1 3' end, G-C mutat ion

involving, 13, 234 CpG islands, see CpG islands CpG, suppression in vertebrate genomes, lack of role in rarity of

(CpG)~ repeats, 13, 890 DNA, see also specific types o[ DNA

alpha satellite chromosome 8-specific, sequence, higher order repeat structure,

and long-range organization {human), 13, 585 chromosome 10 and chromosome 12, organization and complex-

ity (human), 13, 1125 chromosome 13 and chromosome 21 sequences, discrimination

with PCR (human), 14, 515


chromosome 21 pericentromeric region sequences, close mapping of (GT) n polymorphic marker D21S215 (human), 13, 1365

chromosome-specific, from centromere of chromosome 2, isolation and characterization (human), 13, 122

long tandem arrays at centromere of human chromosome 7, DNA structure near, 14, 912

chromosome-specific, isolated from flow cytometry-sorted chromosomes, PCR amplification (human), 12, 307

alphoid, sequence variations, role in nondetection of aneuploidy at interphase by FISH technique (human), 14, 113

bacterial and yeast clones, automated gridding for screening of ordered libraries, 12, 534

beta satellite, subfamilies on acrocentric chromosome distal and proximal short arms, characterization and localization (human), 12, 573

CFTR coding regions and splice site junctions, gel electrophoretic analysis: identification of cystic fibrosis mutations, 13, 770

cloned, physical mapping on banded chromosomes by fluorescence in situ hybridization (mouse), 12, 106

complementary adenylate kinase 3, characterization and mapping of AK3 pseudo-

gene to intron o f N F 1 gene (human), 13, 537 apolipoprotein C-I, isolation and characterization (baboon), 13,

368 bovine and human homologs of murine transplantation antigen

P198: conservation among mammalian species, 14, 959 brain-expressed sequence tags, chromosomal assignment with flu-

orescent PCR products from hybrid cell panels (human), 14, 808

cellular DNA binding proteins ILF-1 and ILF-2, nucleotide sequence, 13, 665

cerebellum-expressed clones, isolation, mapping, and characterization (human), 14, 813

cerebral, multiple, chromosomal assignment (human), 12, 492 clones from subtracted retinal pigment epithelium library, chro-

mosomal localization and expressed sequence tags (human), 13, 873

cyclin D genes CCND2 and CCND3, cloning (human), 13, 575 dopa decarboxylase gene, characterization (human hepatoma),

13, 469 feline arylsulfatase B, isolation, expression, and comparison with

human ARSB cDNA and protein, 14, 403 fragile X and Hunter syndromes clones, human, genetic mapping

on murine X chromosome, 12, 814 GABA receptor subunit rho2, identification (human), 12, 801 fl2-glycoprotein gene, cloning: gene mapping to chromosome 11

(mouse), 13, 1082 gpl30 signal-transducing molecule for interleukin-6, cloning and

sequencing (rat liver), 14, 666 long-chain acyl-CoA dehydrogenase gene, cloning and nucleotide

sequence (human), 11,609; erratum, 12, 626 lysyl hydroxylase, cloning and derived amino acid sequence (hu-

man), 13, 62 MARCKS protein, cloning and chromosomal mapping (human),

14, 175 p l l calpactin I light chain, nucleotide sequence (human), 13, 866 proa2(I) collagen chain, murine, derived amino acid sequence,

comparison with human proa2(I) collagen, 13, 1345 with similarity to conserved region of collagenase gene family,

cloning and characterization (human), 12, 175 Small eye murine homolog of human aniridia cDNA, cloning and

characterization, 13,251 surveying with, in identification of specific tissue expression of

chromosome 19 sequences (human), 14, 263 thrombospondin II, partial sequence (human), 12, 421 zinc finger-encoding, ZNF45, Kriippel-associated box character-

ization (human), 12, 581

complex genomes, polymorphic loci, detection with synthetic tandem repeats, 12, 454

cosmid clones linking, localization to chromosome 11q (human), 13, 134 ordered sets, generation from human chromosome region 11p,

13, 89 overlapping, in Xq24-qter region, chromatographic identifica-

tion and purification (human), 13, 1353 end fragments, of YAC inserts, walking with sequence-tagged sites

from, in mapping human chromosomes, 14, 241 family of Y-chromosomal repeats, sequences from, analysis (bo-

vine), 13, 1267 fragment sequence overlaps, detection, contig assembly program

based on, 14, 18 genomic

base compositional structure (Escherichia coli, human), 13, 1056 sequences homologous to sea urchin TU elements, analysis: genet-

ically stable polydispersed repeats useful for RFLP analysis (mouse), 12, 357

human chromosome 9q34, 5 Mb/17 cM, radiation-reduced hybrid cell line containing, creation, 13, 841

large repeat sequence element specific to murine chromosome 8, isolation and initial characterization, 12,517

long-range repeat cluster in chromosome 1, description: relationship to germline homogeneously staining region (Mus musculus), 12, 80

malignant melanoma deletion-region-specific genomic clones, generation by chromosome microdissection (human), 14, 680

95 kb spanning T-cell receptor Ca/C5 region, organization, structure, and function (mouse), 13, 1209

ordered sets of overlapping clones, recombination-based construction, MEPS parameters and graph analysis for, 13, 1065

PCR-mediated amplification, in fingerprinting human chromosomes, 14, 728

postreplication repair, associated human genes HHR6A and HHR6B homologous to yeast RAD6, mapping to Xq24-q25 and 5q23-q31, 12,447

rabbit genome, 5' ends of LINE1 repeats, definition of subfamilies: short sequence conserved between rabbits and humans, 14, 320

repetitive sequences, chromosome 16-specific, mapping to regions associated with breakage/rearrangement in leukemia cells (human), 13, 332

satellite III, localization of breakpoints in Robertsonian translocations by FISH (human), 14, 924

satellite-like repetitive sequences, families, identification (zebrafish), 13, 1169

sequence analysis and comparison by hybridization to arrays of oligonucleotides, 13, 1008

sequence homologies between sex chromosomes in primate species, evolution, 14, 1032

single base mutations, detection with mismatch repair enzymes (human), 14, 249

structural genes and related fragments, chromosomal assignment by Southern blot analysis of ratXmouse somatic cell hybrid clones (rat), 12, 659

tandem repeats, see Tandem repeats target, general amplification by degenerate oligonucleotide-primed

PCR, 13, 718 telomeric

fragments, YAC cloning (Plasmodium falciparum), 14, 332 tandemly repeated sequences, genetic mapping (tomato), 14, 444

32 clones on 11p15, in identification of 57 conventional RFLP and 6 VNTR systems (human), 13, 1296

trophoblast antigen-related and other sequences, regional localization to human chromosome 6q with somatic cell hybrids, 12, 693


YAC clones, FISH after Alu-PCR amplification, 13, 826 DNA-directed DNA polymerase

type 5, gene mapping to 19q13.3-q13.4 by in situ hybridization (human), 14, 205

DNA fingerprinting random restriction enzyme, cosmid contigs formed by, in FISH

mapping of chromosome 19 (human), 14, 162 trimeric and tetrameric tandem repeats in, implications of genotype

survey in four U.S. ethnic groups, 12, 241 DNA fragments

NotI, of flow-sorted human chromosome 22, specific clone libraries, construction with shotgun PCR, 13, 109

DNA libraries chromosome 11p15.5-specific, for identification of gene sequences

in Beckwith-Wiedemann syndrome and tumorigenesis, 13, 1274

chromosome 22-specific, differential Alu-PCR hybridization on, in rapid isolation of cosmids from defined subregions (human), 13, 395

chromosome-sorted, PCR amplification from, in mapping acetylcholinesterase gene to 7q22 (human), 13, 1192

with clones specific to NotI fragment of flow-sorted human chromosome 22, construction with shotgun PCR, 13, 109

construction from chromosomal regions 8q23.3-q24.11 and 2q33- qter {human), 13, 349

NotI linking and boundary, construction method with restriction trapper, 14, 733

region-specific microdissection, from 2q35-q37, construction and characterization {human), 14, 769

subtracted, retinal pigment epithelium cDNA, clones from, chromosomal localization and expressed sequence tags (human), 13, 873

DNA ligase type I, gene assignment to 19q13.2-13.3 (human), 12, 164

DNA markers allotypic, Ig kappa chain, PCR-based genotyping for determination:

allelic association of Km with kappa variable segment, 13, 104

C7, B24, and L1, on chromosome Xp21.3, ordering by in situ fluorescence hybridization: cen-DXS28(C7)-DXS67(B24)- DXS68(L1)-tel {human), 13,455

chromosome 3 3cen-p21.1 assignments, refinement (human), 14, 891 p region, ordering by radiation hybrid mapping (human), 13,705

chromosome 6-specific, cloning, application of Alu-PCR, 12, 549 chromosome 7, centromeric and telomeric, closure of human 7q ge-

netic linkage map with, 14, 1041 chromosome 10

cloning and mapping with repeat element-mediated PCR (human), 13, 409

multiple, RFLP systems detected by, identification {human), 12, 401

pericentromeric region, isolation and high-resolution mapping (human), 13, 601

chromosome 11 excluding 11p13-p15.5 region, isolation and sublocalization with

radiation-reduced somatic cell hybrids (human), 13, 1133 q13 region loci, mapping relative to regional chromosomal break-

points (human), 12, 738 chromosome 17, proximal region, isolation and identification, 13,

551 chromosome 19, tightly linked to myotonic dystrophy locus, cosmid

and YAC contig containing, characterization, 13, 526 chromosome 20, physical mapping with somatic cell hybrid cell

lines and FISH {human), 14, 532 chromosome 21

gene-dosage mapping (human), 13, 887 mapped, sequence-tagged sites for (human), 14, 498

set of 14, ordering based on radiation hybrid data, 13, 95 cosmid

chromosome 3, mapping by direct R-banding FISH (human), 13, 1047

chromosome 11, high-resolution cytogenetic map (human), 13, 129

CYP21, PRL, and BOLA DRBP1, mapping by genetic linkage analysis in reference pedigrees (bovine), 14, 526

dinucleotide repeat, in construction of genetic and physical maps of chromosome 4 {human), 14, 209

D3S2 and D3S3, on chromosome 3p, recombination between, measurement with sperm typing {human), 12, 683

D4S95 and D4S133/D4S228, separated by 3 Mb on 4p16.3, nonran- dora association with Huntington disease, 13, 301

D4Sl11, polymorphism detected at, 86-bp VNTR within a-L-iduronidase gene as basis (human), 14, 1119

D5S6, and MAP1B locus, fine-mapping of spinal muscular atrophy locus in intervening 5q13 region (human), 13, 991

D5S39, close linkage to chronic childhood-onset spinal muscular atrophy in French Canadian families, confirmation, 14, 188

D8S133, mapping to chromosome 8p with highly informative polymorphic complex dinucleotide repeat (human), 13, 232

D10S94, in M E N 2 A region in proximal 10qll.2 detection of

additional RFLPs: development of PCR-based variant detection systems (human), 13, 233

cluster of CpG islands (human), 13, 339 mcs94.1 gene identification and characterization (human), 13,

344 DllS533, highly polymorphic, regional localization on l l q linkage

map (human), 14, 820 D12S14, keratin 5 gene assignment close to, application of somatic

cell hybrids and nmlticolor in situ hybridization (human), 13, 452

D21S13 and D21S16, contig encompassing: walking, cloning, and mapping with YACs (human), 12, 42

D21Sl12, associated VNTR systems, characterization (human), 14, 816

D21S215, (GT)n polymorphic, mapping on chromosome 21 close to centromeric alphoid sequences (human), 13, 1365

D21S221, D21S225, and D21S226, polymorphic (TAAA)n, on chromosome 21, cloning and linkage mapping (human), 14, 1071

DXS89, detected by pTAK10, detection of homologous sequence on Y chromosome (human), 14, 554

DXS255 and DXS566, in mapping of Aarskog syndrome gene: Xpll .2-Xql3 (human), 14, 298

(GT) n dinucleotide repeat-based, identification on chromosome 21 (human), 14, 818

heterozygosity and intermarker distance, relative importance in gene mapping, 13, 951

highly polymorphic, generation at chosen loci, general method: YAC-based identification of CA repeat at TCRA locus, 13, 820

in human genome, CpG islands as, 13, 1095 in linkage analysis of Usher syndrome type 1: exclusion results, 14,

707 microsatellite

(AC),, chromosome 16, isolation and characterization (human), 13, 402

in construction of chromosome 20 genetic linkage map (human), 12, 183

covering human chromosome 18, identification and localization, 14, 1095

polymorphic physical mapping, in fine genetic localization of PKD1 gene (hu-

man), 13, 152 in Xq28 region, in mapping X-linked hydrocephalus gene distal

to DXS52 (human), 14, 508


from region between incontinentia pigment I X-chromosomal translocation breakpoints, isolation by comparative radiation hybrid PCR analysis, 14, 649

RFLP, on chromosome 8, isolation and mapping (human), 13, 1261 sequence tagged sites specific for chromosome 21, generation (hu-

man), 14, 185 simple sequence repeats, polymorphic, identification in zebrafish

genome, 14, 200 (TG), repeat, distal to myotonic dystrophy area on 19% identifica-

tion, 13, 509 X chromosome

isolated from distal p region, physical mapping (human), 13, 167 p21 region, between DXS28 (C7) and DMD, identification (hu-

man), 13, 957 p21.3-p22.2 region, generation from irradiation hybrids with

Alu-PCR, 12,368 DNA methylation

imprint, determined by sex of parent, in distinguishing Angelman and Prader-Willi syndromes, 13, 917

DNA polymerase 5, see DNA-directed DNA polymerase DNA polymorphisms, see also specific types

Alu anonymous, on chromosome 11, cloning and PCR-single-strand

conformation polymorphism analysis (human), 12, 139 loss, human dimorphism resulting from, 14, 590

in AML1 gene 3' untranslated region, in gene linkage mapping on chromosome 21 (human), 14, 506

(CA)~ dinucleotide repeat, application in mapping liver/islet glucose transporter gene in chromosome 3q linkage map and characterization in three racial groups, 13,495

in carbonyl reductase gene 3' untranslated region, in linkage mapping of CBR gene on chromosome 21 (human), 13, 447

centromeric and telomeric, closure of human chromosome 7q genetic linkage map with, 14, 1041

chromosome 13 assignments, refinement by in situ hybridization (human), 12, 852

chromosome 16p, large (CA), repeat in region of divergence between subtelomeric alleles (human), 13, 81

in chromosome-specific a-satellite DNA from chromosome 2, analysis (human), 13, 122

in complex genomes, detection with synthetic tandem repeats, I2 , 454

cytochrome P450 gene cluster with high degree of, evolution: CYP2D6 (human), 14, 49

at D3S2 and D3S3 on chromosome 3p, recombination between, measurement with sperm typing (human), 12, 683

D 4 S l l l locus, 86-bp VNTR within a-L-iduronidase gene as basis (human), 14, 1119

exonic, PCR-based detection in type VII collagen gene at 3p21.1 (human), 14, 827

in glucocerebrosidase gene, analysis (human), 12, 795 GT repeat, high-resolution map for chromosome 9q (human), 12,

229 heteroduplex, detection of single base substitutions as, 12, 301 high-frequency, in insulin receptor gene, detection by denaturing

gradient gel blots (human), I2 , 705 highly informative complex dinucleotide repeat, in linkage mapping

D8S133 locus to chromosome 8p (human), 13, 232 highly polymorphic locus DllS533, regional localization on l l q link-

age map (human), 14, 820 human sperm receptor ligand ZP3, cloning-and characterization:

second polymorphic allele with different frequencies in Cau- casian and Japanese populations, 14, 1064

locus DXS455 with high frequency, in proximal Xq28, isolation and characterization (human), 12,710

microsatellite on chromosome 9, linkage mapping (human), 12, 607 on chromosome 10, linkage mapping (human), 12, 604

MspI, cysteine-rich protein gene-associated, identification (human), 14, 391

in pepsinogen C gene, PCR detection: construction of linkage map around PGC from 6p l l to 6p21.3 (human), 14, 398

physically mapped markers, in fine genetic localization of PKD1 gene (human), 13, 152

in prolactin-related proteins and placental lactogen (bovine), 14, 137

in ryanodine receptor gene coding sequences, identification in malignant hyperthermia patients, 13, 1247

short tandem repeat on chromosome 8, linkage map construction: effect of genotyping

errors (human), 14, 144 on chromosome 14, continuous linkage map (human), 13, 532

simple repeat, for mapping proximal 17p, identification with sequence-tagged sites, 13, 551

simple sequence repeat, 100, isolation and chromosomal assignment (human), 13, 622

single-strand conformation, in detection of mutations in factor VIII gene (human), 13, 909 point mutations in ornithine 5-aminotransferase gene (human),

13, 389 protocol for typing sequence and length variation in apolipopro-

rein B intron 20 20 Alu repeat (human), 14, 449 in subtelomeric regions of normal karyotypes, multiple variants

(human), 14, 1019 tetranucleotide (TAAA), repeats on chromosome 21, cloning and

linkage mapping (human), 14, 1071 (TG), variable simple sequence motif, distal to myotonic dystrophy

area on 19q, identification, 13, 509 in uniparental isodisomy, analysis: postzygotic duplication of chro-

mosome 21 in somatic cells monosomic for chromosome 21 (human), 13, 269

in Xq21.33-q24 region, amplification: DXS17, DXS87, and DXS287 and a-galactosidase A (human), 13, 70

DNA probes Alu-PCR-generated, in YAC mapping by FISH, 13, 726 chromosome 10-specific, mapping, application of radiation/fusion

hybrids containing parts of human chromosome 10, 13, 25 genomic, to proximal chromosome 1, microdissected, identification

and mapping (mouse), 14, 32 malic enzyme cDNA, detection of cross-hybridizing sequences

closely linked to loci encoding other metabolic enzymes (mouse), 12, 405

NotI linking, assignment to chromosome 6 long arm with somatic cell hybrid mapping panel (human), 12, 542

single-locus hypervariable, dissection of human (CAC)d(GTG) 5 multilocus fingerprints into, 13, 983

DNA rearrangements in collagen a5(IV) gene COL4A5 in Alport syndrome individuals:

refinement with pulsed-field gel electrophoresis, 14, 624

DNA repair double-strand breaks, associated gene XRCC5, assignment to chro-

mosome 2 (human), 13, 1088 nucleotide excision repair pathway, associated gene ERCC6, map-

ping to 10qll-q21 (human), 12, 745

DNA repeats fibronectin type III, cluster detected in MHC class III region, high

homology with tenascin repeats (human), 12, 485 microsatellite, physical mapping near RYR1 locus on 19q13.1: ap-

parent exclusion of malignant hypertherma susceptibility locus, 14, 749

moderately repeated Y-specific sequence, human, evolutionary conservation in great apes, 13,363

polymorphic simple sequence, identification in zebrafish genome, 14, 200


DNA replication coupling to mitosis, associated RCC1 gene, complete nucleotide se-

quence, 11,459; erratum, 12, 181 DNA sequencing

method for statistical reconstruction of large sequence from set of sequenced fragments, 14, 89

95 kb near 3' end of T-cell receptor a/5 chain locus: strategy and methodology (mouse), 13, 1198

DNA sizing technology automated, application for genotyping microsatellite loci, 14, 1026

Dopa decarboxylase, see Aromatic-L-amino acid decarboxylase Dopamine ~hydroxylase, see Dopamine ~-monooxygenase Dopamine fl*monooxygenase

gene mapping to chromosome 2 (mouse), 12, 715 Dopamine receptors

D2, encoding gene on 11q23, structure and linkage to NCAM gene on chromosome 11q23 (human), 14, 1010

D5 functional gene and pseudogenes, chromosomal localization (hu-

man), 13, 968 gene localization to 4p15.1-p15.3 centromeric to Hunt ing ton ' s

disease locus (human), 12, 510 DRD4, mapping to distal l l p close to HRAS (human), 13, 208

Dopamine t ranspor ter encoding DAT1 gene, mapping to 5p15.3 and detection of VNTR

(human), 14, 1104 Duchenne muscular dystrophy

associated locus on Xp21, and DXS28 (C7), identification of markers in intervening region (human), 13, 957

Dysgenesis gonadal, in XY sex reversal, associated nonsense mutat ion in S R Y

(human), 13, 838 Dysplasia

hypohidrotic ectodermal, gene mapping around Xq13.1 breakpoints of two X/A translocations in female patients, 14, 523

Dystrophin encoding gene

deletion-prone region, involvement of transposon-like element, 13, 594

distal portion exon structure, determination by vectorette PCR (human), 13, 942

2.6-Mb YAC contig spanning, construction with STS-based approach (human), 12, 474

mRNA, processing error, detect ion in golden retriever muscular dystrophy homolog of Duchenne MD, 13, 115

Dystrophy macular, North Carolina, gene assignment to chromosome 6 (hu-

man), 13, 681 muscular, see Muscular dystrophy

E

Ectopic t ranscr ipt analysis demonstrat ion of exon skipping in ant i thrombin III gene: de novo

splice site muta t ion causing recurrent venous thrombosis (human), 13, 1359

Electroencephalogram low-voltage variant, associated gene, localization on 20q: genetic

heterogeneity (human), 12, 69 Endothelial cells

umbilical vein, expression of thrombospondin II gene (human), 12, 421

Epidermolysis bullosa dystrophic forms, candidate type VII collagen gene at 3p21.1, PCR-

based detection of exonic polymorphisms (human), 14, 827 Epithelium

ret inal pigment, cDNA clones from subtracted library, chromosomal localization and expressed sequence tags (human), 13, 873

Equine infectious anemia virus DNA single base substitutions, detection as heteroduplex polymor-

phisms, 12, 301 Errors

in genetic linkage data, systematic detection, 14, 604 in reference linkage data, interactive program CHROMLOOK for

detection, 14, 517 Eukaryotic cells

knowledge base for predicting protein localization sites in, 14, 897 Evolution

abundant tandemly repeated 190-bp DNA fragment in parrots: sequence comparison with flamingo, 14, 462

apolipoprotein C-I: homology comparisons among sequences from baboon, dog, human, and rat, 13, 368

artiodactyl Y chromosome, implications of sequences from family of bovine Y repeats, 13, 1267

chromosome 10 linkage group comprised of nine polymorphic loci: linkage conservation with human chromosome 17 and murine chromosome 11, 14, 618

chromosome 16p exchange with Xq and Yq: large (CA)n repeat in 16p region of divergence between subtelomeric alleles (human), 13, 81

chromosome 18, murine: genetic linkage map-derived evidence for extensive linkage conservation with human chromosomes 5 and 18, 13, 1281

chromosome 21, human, evidence from in s i tu hybridization in marsupials and monotreme, 13, 1119

conservation of order among A2M, HOX3, INT1, KRAS2, and PAH loci on bovine chromosome 5: comparison with human chromosome 12, 14, 38

dimorphic Al u insertion, role of A l u loss (human), 14, 590 highly polymorphic cytochrome P450 gene cluster: C Y P 2 D 6 (hu-

man), 14, 49 hominoid: analysis of immunoglobulin C n gene family, 13, 194 homology between human l lq13 loci and conserved syntenic re-

gions on murine chromosomes 7 and 19, 12 ,738 HSP70 genes: syntenic conservation in cattle and humans, 14, 863 human-mouse homologies in region of polycystic kidney disease

gene P K D 1 , 13, 35 human t ransplanta t ion antigen, 23-kDa: conservation among mam-

malian species, 14, 959 LINE1 repeats, analysis by 5' ends: short DNA sequence conserved

between rabbits and humans, 14, 320 mammalian chromosomes, implications of CFTR gene localization

to chromosome 4 (rat), 14, 869 mammalian genomes: synteny mapping in bovine HSA4, 14, 131 mammalian fl globin gene cluster: galago comparison with other

mammals, 13, 741 M u s species differentiation: amplified long genomic sequences lo-

cated in centromeric regions, 13, 1186 p l l calpactin I light chain: amino acid sequence al ignment of hu-

man, rodent, and ungulate polypeptides, 13, 866 primate: combinations of D R B genes conserved between gorilla and

human, 14, 340 pr imate haptoglobin gene cluster: analysis of junct ions between

genes (chimpanzee), 14, 948 prosaposin chromosomal gene (human), 13, 312 relat ionships between carcinoembryonic ant igen/pregnancy-spe-

cific glycoprotein gene family members (human), 12, 780 ret inoblastoma gene in great apes: differences in intragene hyper-

variability, 14, 1112 sex chromosomes

DNA sequence homologies between sex chromosomes in primate species, 14, 1032

implications of autosomal localization of amelogenin gene in monotremes and marsupials, 14, 785

snRNP E protein gene, conservation of coding and transcript ional control sequences (chicken, mouse), 14, 883


Tcp-lO gene family, concerted, implications for functional basis of t haplotype transmission ratio distortion (mouse), 12, 35

type IV collagen genes: implications of colocalization of a3 and a4 chain genes to chromosome 2 bands q35-q37 (human), 13, 809

X-Y homologous gene amelogenin: mapping to Xp and Yp and high degree of conservation in primates, 14, 203

Y chromosome: conservation of human moderately repeated Y-specific sequence in great apes, 13, 363

Exclusion mapping nonrhodopsin autosomal dominant retinitis pigmentosa: exclusion

of chromosome 6 and 8 locations (human), 14, 191 Exons

coding, identification by similarity search, Alu-derived and other potentially misleading protein sequences, 12, 838

distal portion of dystrophin gene, structure, determination by vectorette PCR (human), 13, 942

Exon skipping in ant i thrombin III gene, demonstrat ion by ectopic t ranscript analy-

sis: de novo splice site muta t ion causing recurrent venous thrombosis (human), 13, 1359

invariant, in a-galactosidase A pre~mRNA: g+l to t substi tution in 5'-splice site causing Fabry disease (human), 12, 643

Expressed sequence tags for cDNA clones from subtracted ret inal p igment epithelium li-

brary, identification (human), 13, 873

Fabry disease associated a-galactosidase A pre-mRNA mutation: g÷l to t substitu-

t ion in if-splice site causing invar ian t exon skipping (human), 12 ,643

Factor VIII human gene

evidence for th i rd t ranscript from, 14, 585 mutations, detection with single-stranded conformational poly-

morphism, 13 ,909 murine gene

comparison with human F8A gene: sequence conservation, 13, 862

localization: exception to conserved linkage between human and mouse in Xq28 region, 13, 1289

Factor IX gene mutations, detection with dideoxy fingerprinting (human),

13, 441 promoter gene, A to T transversion at position - 5 resulting in hemo-

philia B, 12, 161 Fibroblasts

expression of thrombospondin II gene (human), 12, 421 monosomic for chromosome 21, duplication of chromosome 21 in,

role in uniparental isodisomy (human), 13, 269 Werner syndrome, and HL60 cells, hypoxanthine phosphoribosyl-

transferase gene deletions, nucleotide sequence analysis (human), 13, 777

Fibronectin type III repeat cluster detected in MHC class III region, high homol-

ogy with tenascin repeats (human), 12 ,485 Fingerprinting

chromosomes by PCR-mediated DNA amplification (human), 14, 728

dideoxy, in detection of mutations: human factor IX gene mutations, 13, 441

Fingerprints (CAC)J(GTG) 6 multilocus, dissection into individual locus-specific

hypervariable components (human), 13, 983 FISH, see Fluorescence in situ hybridization FISSH, see Fluorescence in situ suppression hybridization

Flow cytometry sorted chromosomes, chromosome-specific DNA isolated from,

PCR amplification (human), 12, 307 Flow sorting

and Alu element-mediated PCR, in fluorescent in situ identification of human marker chromosomes, 13, 355

chromosomes, in shotgun PCR-based construction of clone libraries specific to NotI fragment of chromosome 22 (human), 13, 109

Robertsonian chromosome, in molecular mapping of chromosomes 4 and 6 (mouse), 13, 761

Fluorescein -12-dUTP, in FISSH detection and characterization of chimeric

YAC clones (human), 14, 536 Fluorescence

in in situ identification of human marker chromosomes with flow sorting and Alu element-mediated PCR, 13, 355

Fluorescence in situ hybridization with Alu-PCR-generated probes, in YAC mapping, 13, 726 in assignment of slow skeletal t roponin T gene to 19q13.4 (human),

13, 1374 in determination of

genomic organization of 11q13 folate receptor gene region (human), 14, 423

order and genomic distances among carcinoembryonic antigen gene family members (human), 12, 773

direct R-banding, in mapping 291 cosmid markers on chromosome 3 (human), 13, 1047

failure to detect aneuploidy at interphase, role of variations in alphoid DNA sequences (human), 14, 113

in identification of human marker chromosomes with flow sorting and Alu element-mediated PCR, 13, 355

in localization of acetylcholinesterase gene to 7q22 (human), 13, 1192 breakpoints in Robertsonian translocations to satellite III DNA

(human), 14, 924 carnit ine palmitoyltransferase gene to l p 1 3 - p l l (human), 13,

1372 cosmid clones isolated from flow-sorted human X chromosome

library, 14, 542 H+,K+-ATPase a-subuni t gene to 19q13.1 (human), 14, 547 H+,K+-ATPase ~-subunit gene to 13q34 (human), 14, 1114 kinesin-related gene to band 10q24 (human), 13, 1371 nerve growth factor fl to microchromosome (chicken), 12 ,829 progesterone receptor and ovalbumin genes (chicken), 13, 1343 YAC clones: single-yeast colony PCR and multiple labeling (hu-

man), 14, 181 in mapping chromosome 19 with cosmid contigs (human), 14, 162 in ordering chromosome Xp21.3 DNA markers: cen-DXS28(CT)-

DXS67(B24)-DXS68(L1)- tel (human), 13, 455 in physical mapping of

chromosome 20 markers (human), 14, 532 cloned DNA on banded chromosomes (mouse), 12, 106

and simultaneous chromosome banding, in mapping human CYP17 gene to 10q24.3, 14, 1110

in sublocalization of manganese superoxide dismutase gene to 6q25 (human), 14, 823

in subregional mapping of single-copy genes on 12q (human), 14, 775

YAC clones after Alu-PCR amplification, 13, 826 Fluorescence in situ suppression hybridization

in detection and characterization of chimeric YAC clones (human), 14, 536

Folate receptors encoding genes on 11q13, genomic organization (human), 14, 423

Footprints phylogenetic, from/~ globin gene cluster al ignment for galago, hu-

man, and rabbit, 13, 741


Formyl peptide receptors for FMLP, and homolog orphan receptors FPRH1 and FPRH2,

mapping to chromosome 19 {human), 13, 437 Fragile sites

FRA3B, and familial renal cell carcinoma, associated (3;8) translocation breakpoint, detailed mapping in vicinity (human), 14, 412

on human chromosomes, clustering of C2-H 2 zinc finger motif sequences within, 13, 999

Fragile X syndrome human cDNA clones for, genetic mapping on murine X chromo-

some, 12, 814 implicated gene FMR1, mapping on murine X chromosome, 12,818

a-L-Fucosidase gene structure and sequence and pseudogene sequence (human),

12, 276 Furin

and PC1 and PC2 convertases, encoding genes, regional localization on murine chromosomes, 13, 1356

G

GABA receptors, see 7-Aminobutyric acid receptors Galactosemia

associated galactose-l-phosphate uridyltransferase gene cloning, sequencing, and identification of mutation {human), 14,

474 missense mutations in, characterization, 12, 596

Galactose-l-phosphate uridyltransferase, see UDPglucose-hexose- 1-phosphate uridyltransferase

a-Galactosidase A locus in Xq21.33-q24 region, associated polymorphic site, amplifi-

cation {human), 13, 70 pre-mRNA, invariant exon skipping: g+~ to t substitution in 5'-

splice site causing Fabry disease (human), 12, 643 a-l,3-Galactosyltransferase

gene sequences GGTA1 and GGTAIP, assignment to 9q33-q34 and 12q14-q15 (human), 12,613; erratum, 13, 493

Ganglioside GM2 activator protein, encoding gene localization to chromosome 5 and

pseudogene localization to chromosome 3 (human), 14, 796 Gastric intrinsic factor

and transcobalamin I, genomic organization, comparison (human), 12, 459; erratum, 14, 208

Gaucher disease related glucocerebrosidase gene, detection and analysis of polymor-

phisms {human), 12, 795 Gel electrophoresis

denaturing gradient in analysis of CFTR coding regions and splice site junctions:

novel cystic fibrosis mutations, 13, 770 in identification of inactivating germ line mutations at adenoma-

tous polyposis coli gene {human), 13, 1162 field-inversion and two-dimensional, in construction of long-range

physical map of LY-6 complex (mouse), 12, 89 pulsed field

in mapping l lq13 loci {human), 12, 738 in refinement of a5(IV) collagen gene DNA rearrangements in

Alport syndrome patients, 14, 624 Gelsolin

Gs54 -~ A gene mutation associated with Finnish-type familial amyloidosis

detection in all affected individuals by solid-phase minisequencing, 13, 237

homozygosity, association with severe renal disease, 13, 902 identification in Finnish families and unrelated American family,

13, 898 mapping to chromosome 2 (mouse), 12, 715

GenBank (CpG), repeat frequency in major classes of organisms in relation to

other microsatellites, 13, 890 Gene-dosage mapping

DNA markers on chromosome 21 (human), 13, 887 Gene mapping

arylsulfatase B gene (cat), 14, 407 chromosome 18, somatic cell hybrid panel for, 14, 431 in situ hybridization data for, statistical analysis: derivation and

application of z~, x test, 12, 675 interspecies backcross, integrin a 1 gene Vial to murine chromo-

some 13, 14, 503 Rxr loci encoding nuclear retinoid X receptors a, ~, and ~ {mouse),

14, 611 sequences involved in Beckwith-Wiedemann syndrome and tumor-

igenesis, llpl5.5-specific libraries for, 13, 1274 around Xql3.1 breakpoints of two X/A translocations in hypohi-

drotic ectodermal dysplasia female patients, 14, 523 Genes

Aarskog syndrome, mapping between DXS255 and DXS566: Xpl l .2-Xq13 (human), 14, 298

acetlcholinesterase assignment to distal chromosome 5 (mouse), 14, 511 mapping to 7q22 (human), 13, 1192

acid sphingomyelinase, SMPD1, structural organization and nucleotide sequence (human), 12, 197

adenomatous polyposis coli, APC, inactivating germ line mutations, identification (human), 13, 1162

adenylate kinase 3, cDNA, characterization and mapping of AK3 pseudogene to intron of NF1 gene (human), 13, 537

adult skeletal muscle sodium channel locus at 17q23-q25, exclusion of linkage with hypokalemic peri-

odic paralysis (human), 14, 493 a-subunit, as gene candidate for malignant hyperthermia suscep-

tibility (human), 14, 829 agouti locus region on murine chromosome 2, radiation hybrid map-

ping panel for, 13, 731 alanine-glyoxylate aminotransferase, Gly-to-Glu substitution, in-

duced loss of enzyme catalytic activity in subset of patients with primary hyperoxaluria type 1, 13, 215

albumin, ALB, close linkage to dominant white color gene on chromosome 8 (pig), 14, 965

alf/hsdr-1, required for neonatal survival localization by physical mapping of albino-deletion complex

(mouse), 14, 275 minimal region within albino-deletion complex for, definition

with chromosome jumping from flanking markers (mouse), 14, 288

A2M, HOX3, INT1, KRAS2, and PAH loci, on bovine chromosome 5, linkage relations: comparison with human chromosome 12, 14, 38

amelogenin autosomal localization in monotremes and marsupials: implica-

tions for mammalian sex chromosome evolution, 14, 785 X-Y homologous, mapping to short arms of X and Y chromo-

somes: high degree of conservation in primates, 14, 203 AML1, linkage mapping on chromosome 21 with DNA polymor-

phism in 3' untranslated region (human), 14, 506 angiogenin, assignment to chromosome 14 with rapid PCR-RFLP

mapping technique {mouse), 12, 177 angiotensinogen, assignment to chromosome 19 (rat), 12, 350 aniridia, murine homolog, cloning and characterization {human),

13, 251 annexin IV, mapping to chromosome 2p13 (human), 12, 313 antithrombin III, de novo splice site mutation causing recurrent

venous thrombosis: exon skipping (human), 13, 1359 APO-1 antigen, mapping to 10q23: region syntenic with murine

chromosome 19 (human), 14, 179


Apoa-1/Apoc-3 locus, characterization: genomic, mRNA, and protein sequences with comparisons to other species (mouse), 14, 1081

APOA1 and APOA4 loci, linkage analysis (baboon), 14, 43 apolipoprotein C-I, structure and evolution (baboon), 13, 368 apolipoprotein C-II, (TG)~(AG)~ microsatellite in, allele frequency

distribution (human), 12, 63 apolipoprotein D, localization on chromosome 16 (mouse), 12, 851 A-raf-1, and properdin, synapsin I, and TIMP genes, physical link-

age on X chromosome (human, mouse), 12,632 aspartylglucosaminuria, mutant allele frequency in Finland, analy-

sis with solid-phase minisequencing, 12, 590 associated with insertional mutation in line 4 transgenic mice, geno-

mic structure, 13, 159 A TRC1, encoding cationic amino acid transporter, physical and ge-

netic mapping to 13q12-q14 (human), 12, 430 autosomal dominant aniridia loci AN1 and AN2, resolution to sin-

gle locus on 11p13 (human), 13, 925 autosomal dominant polycystic kidney disease, PKD1

fine genetic localization with physically mapped markers (human), 13, 152

localization to 750-kb CpG-rich region on 16p13.3 (human), 13, 144

autosomal dominant retinitis pigmentosa, mapping to chromosome 6p, 11, 870; erratum, 13, 1384

biglycan, fine mapping within Xq28 region with hybrid cell panel (human), 13, 481

bile acid UDP-glucuronosyltransferase, PCR mapping to chromosome 4 (human), 13, 908

bone morphogenetic proteins 5, 6, and 7, chromosomal localization (human), 14, 759

brain-derived neurotrophic factor, mapping between FSHB and HVBS1 at boundary of 11p13-p14 (human), 13, 1331

brain voltage-gated calcium channel, mapping to 12p13-pter (human), 14, 1092

branchiootorenal syndrome, localization to chromosome 8q (human), 14, 841

brown, human homolog TYRP, assigment to 9p23 by nonradioactive in situ hybridization, 13,227

bs, genetic localization on chromosome 2 in relation to Hao-1 and Emv-I3 (mouse), 12, 403

C3 and LDLR loci, linkage analysis (baboon), 14, 43 C5a receptor, mapping to chromosome 19 (human), 13, 437 M-cadherin, mapping to murine chromosome 8 and human

16q24.1-qter near E-cadherin locus, 14, 488 cAMP-dependent protein kinase regulatory subunits RIB and RII~,

mapping on chromosome 7 (human), 14, 63 Ca2÷-pumping ATPase isoform PMCA2, ATP2B2, nucleotide se-

quence and chromosomal localization (human), 14, 484 carbonyl reductase, linkage mapping on chromosome 21 with DNA

polymorphism in 3' untranslated region (human), 13, 447

carboxyl ester lipase, and related gene, genomic organization, sequence analysis, and chromosomal localization (human), 13, 630

carcinoembryonic antigen family cluster, on chromosome 19q, long-range physical mapping (hu-

man), 12, 761

identification of members and size estimation (human), 14, 384 order and genomic distances among members, determination by

fluorescence in situ hybridization (human), 12, 773

relationship of pregnancy-specific glycoprotein family to, analysis (human), 12, 780

cardiac dihydropyridine-sensitive Ca 2+ channel, al subunit, linkage mapping to 12p13.2-pter with dinucleotide repeat (human), 14, 206

cardiac muscle actin, regional localization on chromosome 15q (human), 13,904

cardiac a-myosin heavy chain coding sequences from four strains, allelic differences (mouse), 13, 176

cardiac potassium channel, KCNA1, cloning, characterization, and genomic localization (human), 12, 729

cardiac sarcolemmal Na+-Ca 2+ exchanger, mapping to 2p21-p23 (human), 12, 616

carnitine palmitoyltransferase, mapping to 1p13-p11 by FISH (human), 13, 1372

fl-casein exon skipping in encoded mRNA (human), 12, 13 regional localization to 4pter-q21 (human), 13, 225

catechol-O-methyltransferase, mapping to 22qll.1-~q11.2 (human), 12, 822

CD4, loss of Alu in, human dimorphism resulting from, 14, 590 CD30/Ki-1, assignment to lp36 (human), 14, 825 CD34 antigen, structure (human), 12, 788 CDC4L, with homology to yeast CDC4, identification: clone derived

from retroviral endogenous LTR (human), 13, 1237 CEBP, chromosomal localization (human, rat), 13, 293 CEBPA, encoding CCAAT/enhancer binding protein C/EBPa,

mapping to 19q13.1: mapping of related CEBPB to 20q13.1 (human), 14, 12

cell cycle, CDC25C and CCNB1, assignment to 5q31 and 5q12 (human), 13,911

cellular DNA binding proteins HTLF, gene mapping and characterization (human), 13, 658 ILF, characterization and chromosomal mapping, 13, 665

-centromere linkage mapping by PCR analysis of individual oocytes, description (mouse), 13, 713

Charcot-Leyden crystal protein, eosinophil, localization to chromosome 19 (human), 13, 240

cholesterol 7a-hydroxylase, cloning and localization to 8q11-q12 (human), 14, 153

choline acetyltransferase, partial sequence (human), 12, 412 chromosomal, prosaposin, structure and evolution (human), 13,

312 chromosome 3 short arm, genetic linkage map: 96 loci (human), 13,

275 chromosome 4, human, synteny mapping in bovine, 14, 131 chromosome 5, human

long arm, radiation hybrid map, 11,701; erratum, 14, 832 synteny mapping in bovine, 14, 126

chromosome 15, loci spanning, order and genetic distance (mouse), 14, 417

chronic childhood-onset spinal muscular atrophy, close linkage to D5S39 in French Canadian families, confirmation, 14, 188

collagenase family, conserved region, cDNA with similarity to, cloning and characterization (human), 12, 175

collagen type IV a3 and a4 chains, colocalization to chromosome 2 bands q35-q37 (human), 13, 809

collagen type IV a5 chain DNA rearrangements in Alport syndrome individuals: refine-

ment with pulsed-field gel electrophoresis, 14, 624 at Xq22-q23, long-range mapping (human), 12, 130 YAC contig encompassing, construction, 14, 634

collagen type V a l chain, mapping to 9q34.2-~q34.3 near nail-patella syndrome locus (human), 12,836

collagen type VII a l chain, at 3p21.1, PCR-based detection of two exonic polymorphisms (human), 14, 827

collagen type XII a l chain, murine, and human al(XII)-like, mapping to murine chromosome 9 and human chromosome 6, 14, 225

collagen type XV al chain, assignment to 9q21--~q22 (human), 14, 220

colony-stimulating factor 1 receptor, mapping to proximal 3q (owl monkey), 13, 1174

connexin32, locus GJB1, refined localization to Xql3.1 (human), 13, 479


convertases PC1 and PC2 and furin, regional localization on murine chromosomes, 13, 1356

creatine kinase B, and related pseudogenes, genetic variability in inbred strains of mice, 12, 340

Creb-1 cAMP responsive element binding protein-encoding, structure,

promoter analysis, and chromosomal localization (mouse), 13, 974

mapping to chromosome 1 (mouse), 14, 790 cryptdin, localization on chromosome 8 (mouse), 5, 233; erratum,

12, 626 tt-crystallin, localization to 16p (human), 14, 1116 2',3'-cyclic-nucleotide 3'-phosphohydrolase, assignment to chromo-

some 17 (human), 13, 877 cyclin Bl-related, cDNA isolation and sequencing and chromo-

somal localization (mouse), 13, 1018 cyclin D, CCND2 and CCND3, molecular cloning and chromosomal

mapping (human), 13, 575 cyclins D1, D2, and D3, and pseudogenes, genomic organization,

chromosomal localization, and independent expression (human), 13, 565

cysteine-rich protein, CSRP, analysis, mapping to lq24-1q32, and identification of associated MspI polymorphism (human), 14, 391

cystic fibrosis coding region, detection of 22-bp deletion, 13, 235 mutation caused by single base substitution, detection as hetero-

duplex polymorphism (human), 12,301 cystic fibrosis transmembrane conductance regulator, CFTR

deletion mutation in exon 7, detection in Southern French adult with cystic fibrosis, 13,907

expression and chromosomal localization (mouse), 13, 381 frameshift mutation, identification in exon 4 (human), 12, 854 localization to chromosome 4: implications for evolution of mam-

malian chromosomes (rat), 14, 869 microsatellites within, multiplex PCR amplification (human),

13, 1362 mutational analysis by denaturing gradient gel electrophoresis,

13, 770 nonsense and splicing mutations in exon 19 (human), 12, 417

cytochrome P450 cluster, highly polymorphic, evolution: CYP2D6 (human), 14, 49

cytochrome P45017~, CYP17, localization to 10q24.3 by FISH and simultaneous chromosome banding (human), 14, 1110

cytokeratin 13, chromosomal mapping (human), 14, 495 DBP, chromosomal localization (human, rat), 13, 293 De#r, linkage to defensin-related gene Defcr-rsl (mouse), 14, 363 Defcr-rsl, defensin-related, expression in Paneth cells and linkage

to cryptdin locus Defcr (mouse), 14, 363 dihydropyridine-sensitive calcium channel a2 subunit CCHL2A,

mapping to proximal chromosome 5 (mouse), 13, 1325 DNA double-strand break repair, XRCCS, assignment to chromo-

some 2 (human), 13, 1088 DNA ligase I, assignment to 19q13.2-13.3 (human), 12, 164 DNA polymerase 5, mapping to 19q13.3-q13.4 by in situ hybridiza-

tion (human), 14, 205 dominant white color, /, close linkage to ALB and PDGFRA on

chromosome 8 (pig), 14, 965 dopa decarboxylase, localization to 7pl l : characterization of he-

patic cDNAs (human), 13,469 dopamine ~-hydroxylase, mapping to chromosome 2 (mouse), 12,

715 dopamine receptors

D2, and NCAM gene, on 11q23, structure and linkage (human), 14, 1010

D4, mapping to distal l l p close to HRAS (human), 13, 208 D5

functional gene and pseudogenes, chromosomal localization (human), 13, 968

localization to 4p15.1-p15.3 centromeric to Huntington's disease locus (human), 12, 510

dopamine transporter, DAT1, mapping to 5p15.3 and detection of VNTR (human), 14, 1104

D10S102 locus tightly linked to MEN2A gene, physical mapping of surrounding 950-kb region (human), 12, 394

D12S14 locus, keratin 5 gene assignment close to, application of somatic cell hybrids and multicolor in situ hybridization (human), 13, 452

DSG2, coding for desmoglein HDGC, assignment to chromosome 18 (human), 13, 484

Duchenne muscular dystrophy, YAC contig containing, construction (human), 12, 465

DXS28 (C7) and DMD loci on Xp21, identification of markers in intervening region (human), 13, 957

DXS255 hypervariable locus, 5' CCGG site methylation, role of factors other than X-inactivation status (human), 14, 70

dystrophin deletion-prone region, involvement of transposon-like element,

13, 594 distal portion exon structure, determination by vectorette PCR

(human), 13, 942 2.6-Mb YAC contig spanning, construction with STS-based ap-

proach (human), 12,474 Eb, associated recombination hot spot, meiotic crossing over within,

role of nucleotide sequence identity (mouse), 13, 1334 epidermal antigen, M17S1, mapping near neurofibromatosis i gene

(human), 14, 369 erythroid 5-aminolevulinate synthase, assignment to Xpll .21 distal

subregion by PCR analysis of somatic cell hybrids with X;autosome translocations (human), 13, 211

FACIT-like collagen and a l ( IX) collagen, on human 6q12-q14, synteny between, 13, 884

factor VIII human

evidence for third transcript from, 14, 585 mutations, detection with single-stranded conformational poly-

morphism, 13, 909 murine

comparison with human F8A gene: sequence conservation, 13, 862

localization: exception to conserved linkage between human and mouse in Xq28 region, 13, 1289

factor IX, mutations, detection with dideoxy fingerprinting (human), 13, 441

factor IX promoter, A to T transversion at position - 5 resulting in hemophilia B, 12, 161

familial melanoma exclusion from chromosome lp regions PND/DIS47 and MYCL1

in Australian pedigrees, 12, 18 linkage mapping with 172 microsatellite markers (human), 14,

939 Fas antigen, assignment to 10q24.1 (human), 14, 821 feline arylsulfatase B, localization to chromosome A1, 14, 403 FMLP formyl peptide receptor and homolog orphan receptors

FPRH1 and FPRH2, mapping to chromosome 19 (human), 13, 437

FMR1, implicated in fragile X-linked mental retardation, mapping on murine X chromosome, 12,818

folate receptor, on 11q13, genomic organization (human), 14, 423 FRA2B, at 2q13, localization distinct from 2q13 inverted telomere

repeat arrays (human), 12, 833 a-L-fucosidase, structure and sequence (human), 12, 276 Gsa, GNAS1, in Albright hereditary osteodystrophy patient, identi-

fication of heterozygous 4-bp deletion mutation, 13, 1319 GABAA receptor al-subunit , GABRA1, localization to distal 5q,

confirmation by linkage analysis (human), 14, 745 GABA receptor subunits, rho 2 and rhol, colocalization to human

6q14-q21 and murine chromosome 4, 12, 801


GM2 activator protein, localization to chromosome 5: pseudogene localization to chromosome 3 (human), 14, 796

galactose- 1-phosphate uridyltransferase cloning, sequencing, and identification of mutation (human), 14,

474 missense mutations, characterization: different molecular mecha-

nisms for galactosemia, 12, 596 ~-galactosidase A

associated polymorphic site in Xq21.33-q24 region, amplification (human), 13, 70

Fabry disease mutation causing invariant exon skipping in pre- mRNA: g+l to t substitution in 5'-splice site (human), 12,643

~-l,3-galactosyltransferase, GGTA1 and GGTAIP, assignment to 9q33-q34 and 12q14-q15 (human), 12,613; erratum, 13,493

gelsolin Asn187 mutation in Finnish-type familial amyloidosis

detection in all Finnish type familial amyloidosis individuals by solid-phase minisequencing, 13, 237

homozygosity, association with severe renal disease, 13, 902 identification in Finnish families and unrelated American fam-

ily, 13, 898 mapping to chromosome 2 (mouse), 12, 715

GLI, and LRP loci, 12q 1.3-Mb region spanning, physical map (human), 14, 117

globin, 41-kb cluster of prosimian primate galago, nucleotide sequence and comparative sequence analyses, 13, 741

glucocerebrosidase, detection and analysis of polymorphisms (human), 12, 795

glucokinase, mapping to chromosome 7p using polymorphic (CA), repeat element as marker (human), 12, 319

glycogen debrancher, assignment to lp21 (human), 13, 931 ~2-glycoprotein, molecular cloning and mapping to chromosome 11

(mouse), 13, 1082 glycosyltransferase, multiple sequences responsible for ABO geno-

type, simultaneous determination with allele-specific PCR (human), 12, 670

GM-CSF receptor a chain, CSF2RA, arrangement and localization in X-Y pseudoautosomal region (human), 14, 455

GNAI2, encoding G protein ai2, regional localization: assignment to 3p21 and related sequence to 12p12-p13 (human), 12, 125

Gnb-3, encoding third G protein fl-subunit, localization to chromosome 6 near Raf-1 (mouse), 12, 688

growth arrest-specific, Gas-l, mapping to chromosome 13 bands B3-C2 by in situ hybridization (mouse), 14, 548

growth factor, growth factor receptor, hormone receptor, and neuro- transmitter receptor, on distal 5q, radiation hybrid map (human), 13, 803

haptoglobin cluster, junctions between genes in, analysis (chimpanzee), 14, 948

Harvey ras, HRAS, distal l lp , mapping of D4 dopamine receptor close to, 13, 208

heat-shock protein HSPA6 and HSPA7, expression and localization to chromosome

lq (human), 12, 74 HSP70, syntenic conservation in cattle and humans, 14, 863

HSP90a family, mapping to chromosomes 1, 4, 11, and 14 (human), 12, 214

hepatocyte growth factor-like protein, assignment to chromosome 9 (mouse), 13, 1368

hepatocyte growth factor-scatter factor chromosomal localization (human, rat), 13, 293 localization on chromosome 7 (human), 12,147 regional mapping to 7q21.1 (human), 13, 912

heterogeneous nuclear ribonucleoprotein core protein A1, assignment to 12q13.1 by cDNA competitive in situ hybridization (human), 12, 171

HHR6A and HHR6B, homologous to yeast DNA repair gene RAD6, mapping to Xq24-q25 and 5q23-q31 (human), 12, 447

highly polymorphic locus DXS455 in proximal Xq28, isolation and characterization (human), 12, 710

high-mobility-group I and Y proteins, and related sequences, chromosomal localization (murine spp.), 12, 503

H+,K+-ATPase a-subnnit, mapping to 19q13.1 by FISH technique (human), 14, 547

H+,K+-ATPase/~-subunit, mapping to 13q34 by FISH (human), 14, 1114

homeobox Dbx, genetic mapping to chromosome 7 (mouse), 14, 1107 DLX2/TES1, in Distal-less family, assignment to conserved re-

gions on human and murine chromosome 2, 13, 1157 HOX4E, cloning, sequencing, and expression: strong expression

in adult urogenital tract (human), 13, 425 H-Ras cellular, at 11p15.5, exclusion of linkage with hypokalemic

periodic paralysis (human), 14, 493 HRAS1 cluster, analysis: upstream regions recognizing transcripts

and encoding leucine zipper domain (human), 14, 309 in human genome, association with CpG islands, 13, 1095 human immunodeficiency virus type 1 enhancer binding protein

HIV-EP2, mapping to 6q23-q24 (human), 12, 167 human X-linked, mapping in phalangerid marsupial Trichosurus

vulpecula, 14, 302 Huntington disease

chromosome 4 region containing candidate region and 4p16.3 region, sequence-tagged sites

spanning, 13, 75 4p16.3, gene number estimation and identification of 13 tran-

scripts (human), 13, 1108 radiation hybrid map spanning (human), 13, 1040

and two loci separated by 3 Mb on 4p16.3, nonrandom association between, 13, 301

H-Y antigen, deletion mapping to Y chromosome long arm (human), 13, 1255

hyper-IgM syndrome X-linked form, HIGM1, mapping to Xq26 by close linkage to HPRT (human), 14, 551

hypervariable loci, dissection of human (CAC)J(GTG)5 multilocus fingerprints into, 13, 983

hypoxanthine phosphoribosyltransferase deletions, nucleotide sequence analysis in Werner syndrome fibro-

blasts and HL60 cells, 13, 777 duplications, molecular structure and genetic stability, 13, 788

Icam-1, characterization (mouse), 14, 1076 iduronate sulfatase, isolation of 1.2-Mb YAC contig spanning locus

and identification of heterogeneous deletions in Hunter syndrome patients, 12, 52

a-L-iduronate sulfate sulfatase, deletions and point mutations in, analysis in Hunter syndrome patients, 13, 543

a-L-iduronidase and associated mutation underlying canine mucopolysaccharido-

sis I, architecture, 14, 763 86-bp VNTR in, identification as basis for D4Sl l l polymorphic

locus (human), 14, 1119 structure and sequence (human), 13, 1311

IFI-56K and IFI-54K, interferon- and virus-inducible, mapping to 10q23-q24 (human), 13, 458

immunoglobulin superfamily CTLA4 and CD28, molecular linkage in YACs (human), 13,856 heavy chain constant region family, analysis in hominoids and

evolutionary history, 13, 194 kappa chain, PCR-based genotyping for allotypic markers: allelic

association of Km with kappa variable segment, 13,104 lamda constant region, analysis with shotgun PCR-based con-

struction of clone libraries specific to chromosome 22 NotI fragment (human), 13, 109

pregnancy-specific glycoprotein subgroup, identification of new members and family size estimation (human), 12, 780

incontinentia pigmenti 1, associated X-chromosomal translocation breakpoints


associated DNA markers, isolation by comparative radiation hybrid PCR analysis, 14, 649

proximal Xp region spanning, radiation hybrid map (human), 14, 657

inositol 1,4,5-trisphosphate 3-kinase A and B, in situ hybridization mapping to 15q14-q21 and lq41-q43 (human), 14, 546

Ins-2, and tub, localization to distinct regions of murine chromosome 7, 14, 197

insulin-like growth factor binding proteins I and 3, contiguous localization on chromosome 7 (human), 12, 497

insulin receptor exon 3, juxtaposed short sequence repeat types and haplotypes

near: Mexican American population, 12, 842 high-frequency DNA polymorphisms, detection by denatur ing

gradient gel blots (human), 12, 705 integrin al chain, genetic mapping to murine chromosome 13, 14,

503 inter-a- inhibi tor and pre-a- inhibi tor family, homologous chromo-

somal locations in human and mouse, 14, 83 interleukin-5, mapping to 3q mid-region (owl monkey), 13, 1174 in te r l euk in- l l , genomic sequence and chromosomal localization

(human), 13, 814 interleukin-1 receptor antagonist, IL IRN, mapping to 2q14-q21 in

region of I L - l a and IL-I~ loci (human), 13, 654 interleukin-2 receptor/~ chain, assignment to band E on chromo-

some 15 (mouse), 12, 179 interleukin-5 receptor

localization to chromosome 6 distal half with recombinant inbred murine strains, 12, 855

subunit, localization to 3p24-p26 (human), 14, 755 interleukin-8 receptor types 1 and 2, and IL8 receptor pseudogene,

assignment to chromosome 2q35 (human), 14, 685 interleukin-12 subunits, assignment to chromosomes 3 and 5 (hu-

man), 14, 59 Intin-1 and Intin-3, encoding IaI-related heavy chains, murine,

mapping to 14A2 -~ C1 region, 14, 83 Intin-2, assiagnment to centromeric chromosome 2 (mouse), 14, 83 Intin-4, encoding a l -microglobul in /b ikunin precursor, murine,

mapping to chromosome 4 region conserved between human and mouse, 14, 83

L-isoaspartyl/D-aspartyl protein methyltransferase, mapping to human q22.3-q24 and syntenic region of murine chromosome 10, 14, 852

kallikrein locus, characterization (human), 14, 6 kerat in 5, assignment to 12q near D12S14 by PCR analysis of so-

matic cell hybrids and multicolor in situ hybridization (human), 13, 452

kinesin-related gene, localization to band 10q24 by FISH (human), 13, 1371

Kv3.3 potassium channel , Shaw-related, genomic structure, sequencing, cellular distribution, and chromosomal mapping {human, mouse), 12, 190

LDLR and C3 loci, linkage analysis (baboon), 14, 43 leucine zipper

DNA-binding protein CDR62, in situ mapping to 16p12-p13.1 (human), 13, 1340

neural retina-specific, NRL, mapping to 14ql l . l -q11.2 (human), 14, 491

limb-girdle muscular dystrophy, linkage to chromosome 15, confirmation (human), 13, 1370

lipoprotein lipase, exon 6 Asp2~°-~Asn missense mutation, identification as cause of chylomicronemia in pat ients of different ancestries, 13 ,649

liver/islet glucose t ranspor ter GLUT2, mapping within genetic linkage map of chromosome 3q with (CA) n dinucleotide repeat polymorphism, 13, 495

long-chain acyl-CoA dehydrogenase, cDNA cloning, nucleotide sequence, and assignment to chromosome 2 (human), 11,609; erratum, 12, 626

LRP, and GLI, 12q 1.3-Mb region spanning, physical map (human), 14, 117

LY-6 complex, long-range physical map constructed with field-inversion and two-dimensional gel electrophoresis (mouse), 12, 89

lysyl hydroxylase, PLOD, assignment to 1p36.3-~p36.2 {human), 13, 62

lysyl oxidase, mapping to murine chromosome 18, 14, 822 Machado-Joseph disease, linkage with 6p markers: exclusion of

linkage to spinocerebellar ataxia SCA1 region (human), 13, 852

a2-macroglobulin receptor, assignment to murine chromosome 15 and human 12q13-q14, 13, 472

macrophage mannose receptor, organization (human), 14, 721 malignant hyperthermia susceptibility

apparent exclusion from RYR1 locus on 19q13.1 (human), 14, 749

MHS2, evidence for localization to 17q (human), 14, 562 manganese superoxide dismutase, sublocalization to 6q25 by FISH

and somatic cell hybrid mapping (human), 14, 823 ~-l,3-mannosyl-glycoprotein /~- 1,2 -N-acetylglucosaminyltransfer -

ase, cloning and characterization (mouse), 12, 699 MARCKS protein, chromosomal mapping (human, mouse), 14,

168 MAS1 oncogene homolog Mas-1, ass ignment to chromosome 7

(mouse), 13, 487 Mas proto-oncogene, localization to chromosome 17 region asso-

ciated with genomic imprint ing (mouse), 13, 444; erratum, 14, 208

mcs94.1, at D10S94 in M E N 2 A region, identification and characterization (human), 13, 344

melanin-concentrat ing hormone precursor, PMCH, assignment to human chromosome 12q and rat chromosome 7, 12, 846

Menkes, associated breakpoint in female patient, fine mapping and cloning, 14, 557

M E N 1 locus on human chromosome 11 11q13 region, 14-Mb physical map (human), 13, 16 surrounding genes, comparative mapping relationships with mu-

rine chromosome 19, 14, 26 M E N 2 A locus

D10S94 in region of, MEN2A candidate gene identification and characterization (human), 13, 344

identification potential of RFLP systems detected by chromosome 10 DNA markers (human), 12, 401

tightly linked D10S94, detection of CpG island cluster (human), 13, 339

metabolic enzymes, close linkage to sequences cross-hybridizing with malic enzyme probe (mouse), 12, 405

MHC associated Eb gene recombinational hot spot, meiotic crossing

over within, role of nucleotide sequence identity {mouse), 13, 1334

DR subregion in gorilla, comparison with human: combinations of conserved DRB genes, 14, 340

HLA-A subregion, class I gene contraction within, analysis, 14, 1003

MHC class I assemblages, contraction within HLA-A subregion, 14, 1003 putative G protein mapped to region of, YAC-assisted cloning

{human), 14, 857 telomeric region, physical map and linkage analysis and rele-

vance to primary hemochromatosis gene (human), 14, 232 MHC class II, regulatory factors RFX1 and RFX2, localization on

19p (human), 13, 1307 MHC class III region, cluster of fibronectin type III repeats detected

in, high homology with tenascin repeats (human), 12, 485 m4 muscarinic receptor, genetic linkage mapping {human), 13 ,239 MODY locus on chromosome 20, linkage with PLC1 locus-asso-

ciated microsatellite (human), 13, 560


monoamine oxidase highly polymorphic region near first exon containing GT dinucle-

otide repeat and VNTR motif, characterization (human), 13, 896

MAOA and MAOB, organization and long-range physical mapping of associated region (human), 14, 75

MAOB, highly polymorphic (GT)~ repeat sequence within intron II (human), 12, 176

motor neuron degeneration, Mnd, mapping (mouse), 13, 797 Mullerian inhibiting substance, isolation (rat), 12, 665 multifactorial disease -predisposing, VAPSE-based association stud-

ies, review, 12, 1 multiple endocrine neoplasia type 2A, D10S94 near, detection of

cluster of CpG islands (human), 13, 339 murine t-complex

human homologs, genetic mapping: TCP10 mapping to 6q27 15 cM distal to TCP1 and PLG, 12,826

TCTE3, assignment of human homolog to 6q27, 13, 1337 muscle glycogen phosphorylase, detection of mini- and microsatel-

lite within 1.5 kb: PIC 0.95 combined informativeness (human), 13, 7

myc proto-oncogene, related sequence MYCLK1, mapping and characterization (human), 13, 449

myotonic dystrophy associated area on 19q

distal segment, physical and genetic characterization, 13, 509 proximal segment, physical mapping and cloning, 13, 518

locus on chromosome 19q cosmid and YAC contig containing markers tightly linked to,

characterization, 13, 526 mapping, production of radiation-reduced hybrids for, 13, 243

NADH:ubiquinone oxidoreductase 51-kDa subunit, mapping adjacent to glutathione S-transferase P1-1 gene on 11q13 (human), 14, 1117

NCAM conserved regulatory elements in promotor region (chicken), 14,

875 and D 2 dopamine receptor gene, on 11q23, structure and linkage

(human), 14, 1010 nephrogenic diabetes insipidus, and vasopressin type 2 receptor

gene, colocalization in Xq28 region (human), 13, 1350 nerve growth factor ~, in situ mapping to microchromosome

(chicken), 12, 829 neuroendocrine/brain-type calcium channel al subunit, assignment

to 3p14.3 (human), 13, 1375 neurofibromatosis type 1

nearby mapping of epidermal antigen gene M17S1 (human), 14, 369

NF1, intron, mapping of human adenylate kinase 3 pseudogene to, 13, 537

NFl-related locus, identification on chromosome 15 (human), 13, 1316

YAC contig encompassing, construction (human), 13, 672 neurofibromatosis type 2, NF2, chromosome 22 region containing,

radiation hybrid map (human), 14, 574 neuronal nicotinic acetylcholine receptor subunits

a3, as, and f14, chromosomal localization and physical linkage (human), 12,849

chromosomal localization (human), 13, 962 NFKB1 and NFKB2, mapping to regions associated with transloca-

tions in leukemia (human), 13, 287 NFRKB, encoding tissue-specific DNA-binding protein RKB, map-

ping to llq24-q25 (human), 14, 270 nitric-oxide synthase, localization to 12q14-qter (human), 14, 802 nonrhodopsin autosomal dominant retinitis pigmentosa, exclusion

of chromosome 6 and 8 locations in adRP families, 14, 191 North Carolina macular dystrophy locus assignment to chromo-

some 6 (human), 13,681

nuclear factor NF-IL6, CEBPB, mapping to 20q13.1: mapping of related CEBPA to 19q13.1 (human), 14, 12

nuclear retinoid X receptor subtypes, mapping (mouse), 14, 611 nucleotide excision repair, ERCC6, mapping to 10q11-q21 (hu-

man), 12,745 olfactory marker protein, close linkage to murine deafness mutation

shaker-I, 13, 189 oncomodulin, localization to 7pll-p13: absence of linkage to par-

valbumin (human), 12, 567 ornithine aminotransferase, OAT

mutations in gyrate atrophy, identification (human), 14, 553 point mutations, detection with strand-separating conforma-

tional polymorphism analysis (human), 13, 389 ovalbumin, in situ mapping (chicken), 13, 1343 parvalbumin, localization to 22q12-q13.1: absence of linkage to on-

comodulin (human), 12, 567 PAX1, mapping to 20p11.2 by in situ hybridization (human), 14,

740 pepsinogen A, YAC clone encompassing, mapping by FISH with

Alu-PCR-generated probes (human), 13, 726 pepsinogen C, polymorphisms within, PCR detection: construction

of linkage map around PGC from 6pll to 6p21.3 (human), 14, 398

perforin PRF1, mapping to human 10q22: region syntenic with murine chromosome 10, 13, 1300

peripherin/RDS locus in original 6p-linked pedigree in autosomal dominant retinitis pigmentosa, identification of mutation, 14, 805

phenylalanine hydroxylase, mutations identification in Chinese phenylketonuria patients, 13, 230 missense, phenylketonuria-associated, identification among Chi-

nese, 13, 894 physical mapping to specific chromosomes in Dictyostelium discoi-

deum, 13, 49 plasma carboxypeptidase B, CPB2, mapping to chromosome 13 (hu-

man), 14, 549 a2-plasmin inhibitor, assignment to 17pter-p12 by PCR analysis of

somatic cell hybrids (human), 13, 213 platelet-activating factor receptor, analysis: absence of introns and

mapping to chromosome 1 (human), 13, 832 platelet-derived growth factor A chain, assignment to 7p22, confir-

mation and description of unusual minisatellite (human), 13, 257

platelet-derived growth factor receptor a, close linkage to dominant white color gene on chromosome 8 (pig), 14, 965

PLC1, associated microsatellite, linkage to chromosome 20 MODY locus (human), 13, 560

polycystic kidney disease-associated, PKD1, chromosome 16p region with, human-mouse homologies, 13, 35

polymorphic loci comprising linkage group on rat chromosome 10, genetic map: linkage conservation with human chromosome 17 and murine chromosome 11, 14, 618

polyubiquitin, UBC, assignment to 12q24.3 (human), 12,639 p58 ~lk-1 protein kinase, chromosomal, structure and expression (hu-

man), 13, 613 pregnancy-specific glycoprotein family, in Ig superfamily, identifi-

cation (human), 12, 780 primary hemochromatosis, relationship to telomeric MHC class I

region in 6p21.3 (human), 14, 232 progesterone receptor, in situ mapping (chicken), 13, 1343 prolactin and BoLA-DRB3, close linkage: genetic distance estimate

by single sperm typing (bovine), 13, 44 properdin, and A-raf-1, synapsin I, and TIMP genes, physical link-

age on X chromosome (human, mouse), 12, 632 propionyl-CoA carboxylase a-chain, PCCA, assignment to 13q32 by

in situ hybridization (human), 14, 550 protamine cluster, assignment of transition protein 2 gene (human),

14, 377


protein-tyrosine-phosphatase in hematopoietic cells, Hcph, assignment to murine chromosome 6, 14, 793

prothymosin afamily members, cloning and sequencing: processed pseudogenes lacking deleterious lesions (human), 13, 319

pseudo-, see Pseudogenes pS2 protein, physical linkage to homologous human spasmolytic

protein gene mapped to 21q22.3 (human), 13, 1328 pulmonary surfactant protein, Sftp-1, S#p-2, and Sftp-3, chromo-

somal localization (mouse), 12, 388 RAD6, DNA repair-associated, human homologs HHR6A and

HHR6B, mapping to Xq24-q25 and 5q23-q31 (yeast), 12, 447

RCC1, involved in coupling between DNA replication and mitosis, complete nucleotide sequence, 11,459; erratum, 12, 181

rd, encoding murine rod photoreceptor cGMP phosphodiesterase ~-subunit, mapping of human homolog PDEB to chromosome 4p16, 12, 601

receptor-linked protein-tyrosine-phosphatase, assignment to 20p12-pter by in situ hybridization (human), 13,906

receptor-type tyrosine kinase, FLT4, chromosomal localization (human, mouse), 13, 475

recombination activating, RAG1, assignment to 14q21.3-q22.2 region (human), 13, 488

regulators of complement activation, cluster RCA, analysis with YACs (human), 12, 289

responsible for human low-voltage electroencephalogram variant, localization on 20q: genetic heterogeneity, 12, 69

retinoblastoma, hypervariability within, differences in great apes, 14, 1112

ribonuclease 2 and 3, eosinophil, localization to chromosome 14 (human), 13, 240

ribosomal protein 52-residue, -ubiquitin fusion gene subfamily, identification as

primarily processed pseudogenes (human), 14, 520 intron-containing, chromosomal mapping: no linkage detection

(human), 13, 201 RLBP1, encoding cellular retinaldehyde-binding protein, assign-

ment to human chromosome 15q26 and murine chromosome 7, 12, 58

rod photoreceptor cGMP phosphodiesterase a-,/~-, and ~/-subunits, syntenic assignments (bovine), 14, 699 fl-subunit

homologous to murine rd gene, assignment to human chromosome 4p16, 12, 601

mapping to murine chromosome 5 and human 4p16.3 close to Huntington disease region, 12, 750

retinal cDNA sequence and expression in brain (human), 13, 698

Rps4 inactivation on murine X chromosome, 11, 1097; erratum, 13,

915 mapping near inactivation center on X chromosome (mouse), 12,

363 ryanodine receptor

probable causal mutations leading to human and porcine malignant hyperthermia, refinement of diagnostic assays for, 13, 835

R YR1, coding sequences in malignant hyperthermia patients, polymorphisms and deduced amino acid substitutions in, 13, 1247

serine proteinase granzyme A, T-cell-specific, genomic organization (mouse), 13, 502

serine-pyruvate aminotransferase, single copy, localization on 9q34-q36 (rat), 13, 686

SH2-containing tyrosine phosphatase, chromosomal localization (human), 13, 869

single-copy, on 12q, subregional mapping by FISH (human), 14, 775

situs inversus viscerum, determining left-right symmetry, duplication/deficiency mapping (mouse), 14, 643

skeletal muscle a-actinin, ACTN2, (CA) n repeat polymorphism for, localization on chromosome 1 linkage map (human), 13, 1314

skeletal muscle dihydropyridine-sensitive calcium channel al-subunit, mapping to chromosome 1 (mouse), 14, 1089

snRNP E protein, conservation of coding and transcriptional control sequences (chicken, mouse), 14, 883

spasmolytic protein SML1/hSP, mapping to 21q22.3 physically linked to homologous breast cancer marker gene BCEI/pS2 (human), 13, 1328

spinal muscular atrophy-linked, mapping to 5q12.2-q13 (human), 12,335 5q13 region flanked by MAPIB and D5S6 (human), 13, 991

spinocerebellar ataxia locus on 6p, exclusion of linkage to Ma- chado-Joseph disease locus (human), 13, 852

Sry, Y chromosome, sequence differences (Mus musculus musculus, M. m. domesticus), 13, 236

SRY, nonsense mutation associated with XY sex reversal (human), 13, 838

steroid sulfatase partial deletion, sequence analysis: 3 bp homology at deletion

breakpoints (human), 13, 892 surrounding YAC contig, isolation and characterization (human),

12, 7 stromelysin 3, assignment to 22q11.2 (human), 13, 881 structural, and related DNA fragments, chromosomal assignment

by Southern blot analysis of ratxmouse somatic cell hybrid clones (rat), 12, 659

sulfatase family, cross-species PCR cloning with MOPAC technique (human, mouse), 12, 755

superoxide dismutase, EC-SOD and SOD1L, somatic cell mapping (bovine), 12, 610

Sxr, associated Y chromosome region, structural analysis (mouse), 12, 26

SXS255 hypervariable locus, detection of LINE-1 repeat with CpG island extensively methlated only on active X chromosome (human), 14, 598

synapsin I, and A-raf-1, properdin, and TIMP genes, physical linkage on X chromosome (human, mouse), 12,632

at tandem repeat loci, diversity, comparison between human and chimpanzee, 14, 692

T cell receptor chain, YAC-based identification of highly polymorphic CA re-

peat (human), 13, 820 and B complexes, constant regions, identification of clusters of

biallelic polymorphic sequence-tagged sites (human), 12,377 a/5 chain locus, 95 kb near 3' end, nucleotide sequence analysis

(mouse), 13, 1198 chain, at 7q35, exclusion of linkage with hypokalemic periodic

paralysis (human), 14, 493 Ca/C~i region, 95 kb spanning, organization, structure, and func-

tion (mouse), 13, 1209 TCF1, chromosomal localization (human, rat), 13,293 TCF8, encoding zinc finger protein Nil-2-a, mapping to 10p11.2

(human), 14, 194 Tcp-lO family, concerted evolution, implications for functional

basis of t haplotype transmission ratio distortion (mouse), 12, 35

tcp- l l human homolog, and closely linked testis-expressed zinc finger protein gene ZNF76, mapping to 6p21.2-6p21.3, 14, 673

tenascin-like, detection in MHC class III region: cluster of fibronectin type II repeats with high homology to tenascin repeats (human), 12, 485

~-thalassemia: IVS-1 3' end G-C mutation involving AG invariant dinucleotide at acceptor splice site, 13, 234


thrombospondin II, cDNA sequence, chromosomal location, and expression (human), 12, 421

tissue inhibitor of metalloproteinases TIMP, and A-raf-1, properdin, and synapsin I genes, physical

linkage on X chromosome (human, mouse), 12,632 TIMP-2, localization on

chromosome 11 by linkage analysis (mouse), 14, 828 chromosome 17q25 (human), 14, 782

transcobalamin I, TCN1, genomic structure and mapping: comparison to gastric intrinsic factor (human), 12,459; erratum, 14, 2O8

transcription factor inhibitor IKB/MAD-3, localization to 14q13 (human), 14, 529

transcription factor NF-KB ph0/pl05 subunits, NFKB2, localization to 4q24 (human), 14, 529

transcription and growth factors, chromosomal localization: CEBP, DBP, TCF1, and HGF (human, rat), 13, 293

transition protein 2, nucleotide sequence, assignment to protamine gene cluster, and evidence for low expression (human), 14, 377

tRNA, on chromosome 14, identification of cluster of biallelic polymorphic sequence-tagged sites (human), 12, 377

tropoelastin, elements associated with alternative splicing (rat), 12, 651

troponin T, slow skeletal, assignment to 19q13.4 with somatic cell hybrids and FISH (human), 13, 1374

tub, and Ins-2, localization to distinct regions of murine chromosome 7, 14, 197

tumor necrosis factor receptor type 1, TNFR1, structure and localization to chromosome 12p13 (human), 13,219; erratum, 13, 1384

TYRP, assigment to 9p23 by nonradioactive in situ hybridization (human), 13, 227

ubiquitin, -52-residue ribosomal protein fusion gene subfamily, identification as primarily processed pseudogenes (human), 14, 520

Usher syndrome type I two genes for, localization to chromosome 11 (human), 14, 995 USHIA, localization to chromosome 14q (human), 14, 979 USH1B, localization to chromosome 11q (human), 14, 988

variant, in 4.5 S RNA, sequence organization (mouse), 12, 555 vasopressin type 2 receptor, and nephrogenic diabetes insipidus

gene, colocalization in Xq28 region (human), 13, 1350 ventricular myosin regulatory light chain, localization to 12q23-

q24.3 (human), 13, 829 versican, CSPG2, mapping to 5q12-q14 (human), 14, 845 vinculin, mapping on 10q with complementary physical and genetic

techniques (human), 13, 1347 wr, associated with motoneuron disease and gonadal dysfunction,

mapping to proximal chromosome 11 (mouse), 13, 39 WT1, genomic organization and expression (human), 12, 807 X-linked, corresponding to human fragile X and Hunter syndrome

loci, genetic mapping (mouse), 12, 814 X-linked congenital stationary night blindness

CSNB1, mapping proximal to DXS7 (human), 12, 409 linkage analysis (human), 14, 99

X-linked hydrocephalus, mapping to Xq28 distal to DXS52 (human), 14, 508

zinc finger expressed cluster in chromosome 10 pericentromeric region (hu-

man), 13, 845 HF.10, on 3p21-p22, structural and functional organization (hu-

man), 12, 720 KRAB domain-containing, identification and characterization

(human), 12,581 KRAB subclass, ZNF117, mapping to 7q11.2 (human), 14, 780 linked clusters on l lq , isolation and expression (human), 14, 970

mapping clustering of C2-H 2 ZF motif sequences within telomeric and

fragile site regions on human chromosomes, 13, 999 to short and long arms of acrocentric chromosome 22, cloning

(human), 13, 641 potential, high-resolution localization: occurrence of clustering

(human), 12, 254 ZFY, homologous sequences in marsupial, in situ hybridization

data for, statistical analysis with Zma x test (human), 12, 675 ZNF75, mapping to chromosome Xq26 (human), 13, 1231 ZNF76, testis-expressed, in 6p21.3 centromeric to MHC, close

linkage to human homolog of t-complex gene tcp- l l , 14, 673 ZP3, cloning and characterization: second polymorphic allele with

different frequencies in Caucasian and Japanese populations, 14, 1064

Genetic heterogeneity and clinical heterogeneity, Charcot-Marie-Tooth disease, 12, 155 human low-voltage electroencephalogram variant: 20q localization

of normal variant, 12, 69 nonallelic, in autosomal recessive retinitis pigmentosa, 14, 811 nonrhodopsin autosomal dominant retinitis pigmentosa: exclusion

of chromosome 6 and 8 locations in adRP families, 14, 191 in X-linked amelogenesis imperfecta (human), 14, 567

Genetic linkage map chicken genome, 13, 690 chromosome 1

localization of (CA) n repeat polymorphism for skeletal muscle a- actinin gene ACTN2 (human), 13, 1314

proximal: identification and mapping of genomic DNA probes (mouse), 14, 32

chromosome 2 dopamine fl-hydroxylase and gelsolin genes (mouse), 12,715 interleukin-1 receptor antagonist gene ILIRN (human), 13, 654 murine, partial composite: homeobox gene Tes-1/Dlx-2 and posi-

tion of human homolog, 13, 1157 prepared by CEPH Consortium, description (human), 14, 1055

chromosome 3 long arm, mapping of liver/islet glucose transporter gene with

(CA)n dinucleotide repeat polymorphism, 13, 495 region around breakpoint of (3;8) translocation in familial renal

cell carcinoma and FRA3B (human), 14, 412 short arm: 96 loci (human), 13, 275

chromosome 4 and chromosome 6: construction with flow-sorted Robertsonian chromosome (mouse), 13, 761

chromosome 5 distal region: assignment of acetylcholinesterase gene (mouse), 14, 511

chromosome 6 mapping of Gnb-3 gene encoding third G protein /3-subunit

(mouse), 12, 688 p11-p21.3 region around pepsinogen C gene: PCR detection of

PGC gene polymorphism (human), 14, 398 chromosome 7

genes encoding cAMP-dependent protein kinase regulatory subunits RI~ and RII~ (human), 14, 63

long arm, closure with centromere and telomere polymorphisms (human), 14, 1041

short arm 2-cM region including 47 loci (human), 12, 326 chromosome 8, based on short tandem repeat polymorphisms: effect

of genotyping errors (human), 14, 144 chromosome 9

long arm GT polymorphisms (human), 12, 229 spanning sex-equal distance of 125 cM (human), 14, 715

short arm interferon region, with combined physical map (human), 14, 105

chromosome 10 rat, polymorphic loci comprising linkage group: linkage conserva-


t ion with human chromosome 17 and murine chromosome 11, 14, 618

specific probes, application of radiat ion/fusion hybrids containing parts of human chromosome 10, 13, 25

chromosome 15 comparison with physical map (mouse), 14, 417 interspecific, positioned with respect to centromere, derivation

(mouse), 13, 1075 chromosome 17

epidermal antigen gene mapping near NF1 gene (human), 14, 369

mal ignant hyper thermia susceptibility region: evidence for MHS2 mapping to 17qll .2-q24 (human), 14, 562

chromosome 18 mult ipoint (mouse), 13, 1143 murine, evidence for extensive linkage conservation with human

chromosomes 5 and 18, 13, 1281 chromosome 19, murine, comparative mapping relationships with

human chromosomes 10 and 11 including MEN1 locus, 14, 26 chromosome 20

construction from microsatellite markers (human), 12, 183 PLC1 locus linkage to MODY locus, 13, 560

comparative human chromosome 20 and murine chromosome 2 for five loci:

human PAX1 mapping to 20p11.2, 14, 740 h u m a n and murine, Hun t ing ton disease gene region: t ightly

linked rod photoreceptor cGMP phosphodiesterase/~-subunit gene, 12, 750

continuous, chromosome 14 short tandem repeat polymorphisms (human), 13, 532

with exclusion results for Usher syndrome type 1, 14, 707 gene-centromere, by PCR analysis of individual oocytes, descrip-

t ion (mouse), 13, 713 human homologs of murine t-complex genes: TCP10 mapping to

6q27 15 cM distal to TCP1 and PLG, 12, 826 informative automatable markers for, clusters of biallelic polymor-

phic sequence-tagged sites generating, identification, 12, 377 marker heterozygosity and intermarker distance in, relative impor-

tance, 13, 951 m4 muscarinic receptor locus (human), 13, 239 tandemly repeated telomeric DNA sequences in tomato, 14, 444 X chromosome

four dinucleotide repeat loci, application of multiplex PCR (human), 13, 375

murine, with human cDNA clones for fragile X and Hunter syndromes, 12, 814

Genetic map chromosome 4, based on dinucleotide repeats (human), 14, 209 comparative, bovine, human, and mouse: synteny mapping in

bovine HSA4, 14, 131 bovine HSA5, 14, 126

construction, rule-based program CPROP for, 12, 435 cyclin Bl- re la ted genomic sequences (mouse), 13, 1018 duplication/deficiency, situs inversus viscerum gene determining

lef t-r ight symmetry (mouse), 14, 643 Hmgi and related loci on chromosomes 6, 11, and 17 (murine spp.),

12, 503 proximal chromosome 17: localization of Mas proto-oncogene to re-

gion associated with genomic impr in t ing (mouse), 13, 444; erratum, 14, 208

with radiation hybrid data, statistical properties and application, 13, 95

Genetic predisposition to multifactorial disease, delineation by VAPSE-based association

studies, review, 12, 1 Genetic stability

hypoxanth ine phosphoribosyl t ransferase gene duplications (human), 13, 788

Genetic variation creatine kinase B gene locus and related pseudogenes in inbred

strains of mice, 12, 340 detection at five trimeric and tetrameric tandem repeat loci in four

U.S. ethnic groups, 12, 241 in ret inoblastoma gene, differences among great apes, 14, 1112

Genome mapping chicken: preliminary linkage map, 13, 690 human

CpG islands as gene markers for, 13, 1095 with YACs: contig encompassing D21S13 and D21S16, 12, 42

Genomes base compositional structure (Escherichia coli, human), 13, 1056

Genomic distances between carcinoembryonic antigen gene family members, determi-

nat ion by fluorescence in situ hybridization (human), 12, 773 Genomic imprinting

associated region of chromosome 17, Mas proto-oncogene localiza- t ion (mouse), 13, 444; erratum, 14, 208

DNA methylation, determined by sex of parent, in distinguishing Angelman and Prader-Will i syndromes, 13, 917

Genomic organizaiton acid sphingomyelinase gene SMPD1 (human), 12, 197 aldehyde dehydrogenase pseudogene (human), 13, 465 Apoa-1/Apoc-3 gene locus (mouse), 14, 1081 carboxyl ester lipase gene and related gene (human), 13 ,630 chromosome-specific ~-satelli te DNA from chromosome 2 (hu-

man), 13, 122 cyclin D genes (human), 13, 565 folate receptor genes on chromosome 11q13 (human), 14, 423 4.5 S RNA gene family (mouse), 12, 555 HF.10 zinc finger gene (human), 12, 720 Icam-1 gene (mouse), 14, 1076 long-range, human chromosome 8-specific alpha satellite DNA, 13,

585 mcs94.1 gene at D10S94 in M E N 2 A region, identification and char-

acterization (human), 13, 344 monoamine oxidase genes (human), 14, 75 95 kb spanning T-cell receptor C~/C~ region (mouse), 13, 1209 prosaposin chromosomal gene (human), 13, 312 superoxide dismutase genes EC-SOD and SOD1L, analysis by so-

matic cell mapping (bovine), 12, 610 T-cell~specific granzyme A gene (mouse), 13, 502 variable (dG-dT) n • (dC-dA) n sequences in porcine genome, correla-

t ion with human, 12, 281 WT1 gene (human), 12, 807

Genomic structure hematopoietic stem cell antigen CD34 (human), 12, 788 locus associated with insertional mutat ion in line 4 transgenic mice,

13, 159 Shaw-related potassium channel gene Kv3.3 (mouse), 12, 190 t ranscobalamin I and gastric intrinsic factor genes, comparison (hu-

man), 12, 459; erratum, 14, 208

Genotype ABO blood group, direct determination, application of allele-spe-

cific PCR (human), 12, 670 chromosome 3 short arm in small biopsies from lung cancer pa-

tients, PCR-based RFLP analysis, 12, 221 survey at five trimeric and tetrameric tandem repeat loci in four

U.S. ethnic groups: genetic variation, 12, 241

Genotyping error reduction, effect on linkage maps: chromosome 8 linkage map

based on short tandem repeats (human), 14, 144 microsatellite loci, application of automated DNA sizing technol-

ogy, 14, 1026 PCR-based, for Ig kappa chain allotypic markers: allelic association

of Km with kappa variable segment, 13, 104


Germline homogeneously staining region in chromosome 1, relationship to

long-range repeat cluster (Mus musculus), 12, 80 ~-Globin

41-kb gene cluster, of prosimian pr imate galago, nucleotide sequence and comparative sequence analyses, 13 ,741

Glucocerebrosidase gene polymorphisms, analysis (human), 12, 795

Glucokinase gene mapping to chromosome 7p using polymorphic (CA), repeat

element as marker (human), 12, 319 Glucose t ransporter

liver/islet, GLUT2, gene mapping within genetic linkage map of chromosome 3q with (CA), dinucleotide repeat polymorphism, 13, 495

Glutathione transferase P1-1 gene on 11q13, adjacent mapping of mitochondrial

NADH:ubiquinone oxidoreductase 51-kDa subunit gene (human), 14, 1117

Pi class, sequence at 12q13-q14, identification as reverse-transcribed pseudogene (human), 14, 470

Glycogen debrancher protein gene assignment to lp21 (human), 13, 931

Glycogen phosphorylase muscle, encoding gene, detection of mini- and microsatellite within

1.5 kb: PIC 0.95 combined informativeness (human), 13, 7 fl2-Glycoprotein I

molecular cloning and gene mapping to chromosome 11 (mouse), 13, 1082

Glycoproteins gpl30, interleukin-6 signal-transducing, molecular cloning and char-

acterization (rat liver), 14, 666 pregnancy-specific family, in Ig superfamily, identification of new

members and family size estimation (human), 12, 780 Glycosyltransferase

gene sequences responsible for ABO genotype, simultaneous deter- minat ion with allele-specific PCR (human), 12, 670

GM-CSF receptor, see Granulocyte-macrophage colony-stimulating factor receptors

Gonads dysfunction, associated wobbler mutat ion gene, mapping to proxi-

mal chromosome 11 (mouse), 13, 39 G proteins

Gi~2, encoding gene GNAI2, regional localization: ass ignment to 3p21 and related sequence to 12p12-p13 (human), 12, 125

G~, encoding gene GNAS1 in Albright hereditary osteodystrophy patient, heterozygous 4-bp deletion mutation, 13, 1319

putative, mapping to MHC class I region, YAC-assisted cloning (human), 14, 857

th i rd ~-subunit, gene localization to chromosome 6 near Raf-1 (mouse), 12, 688

Granulocyte-macrophage colony-stimulating factor receptors chain gene CSF2RA, a r rangement and localization in X-Y

pseudoautosomal region (human), 14, 455 Granzyme A

murine T-cell-specific, encoding gene, genomic organization, 13, 502

Graph analysis for use of recombination in construction of ordered sets of overlap-

ping clones, 13, 1065 Gridding

automated, for screening yeast and bacterial ordered libraries, development and application, 12, 534

Growth arrest specific gene Gas-l, mapping to chromosome 13 bands B3-C2 by in

situ hybridization (mouse), 14, 548 Growth factor receptors

encoding genes on distal 5q, radiation hybrid map (human), 13,803

Growth factors encoding genes on distal 5q, radiation hybrid map (human), 13,803 hepatocyte, see Hepatocyte growth factor

Gyrate atrophy orni thine aminotransferase gene mutat ions in, identification (hu-

man), 14, 553

H

Haplotypes for juxtaposed short sequence repeat types near exon 3 of insulin

receptor locus among Mexican Americans, determination, 12, 842

t, t ransmiss ion ratio distortion, funct ional basis, implications of Tcp-lO gene family concerted evolution (mouse), 12, 35

Haptoglobin gene cluster in primates, junctions between genes, analysis (chim-

panzee), 14, 948 Hemochromatosis

primary, encoding gene, relationship to telomeric MHC class I region in 6p21.3 (human), 14, 232

Hemophilia B association with A to T transversion at position - 5 of factor IX

promoter, 12, 161 Hepatic nuclear factor 1

encoding gene TCF1, chromosomal localization (human, rat), 13, 293

Hepatocyte growth factor -scat ter factor, encoding gene

chromosomal localization (human, rat), 13, 293 regional mapping to 7q21.1 (human), 13, 912

Heterogeneous nuclear ribonucleoproteins core protein A1, gene assignment to 12q13.1 by cDNA competitive

in situ hybridization (human), 12, 171 Heterozygosity

loss in chromosome 3 short arm in lung cancer patients, PCR-based RFLP analysis in small biopsies, 12, 221

High-mobility-group proteins HMG-I and HMG-Y, murine gene and related sequences, chromo-

somal localization, 12, 503 Homeobox

associated gene D L X 2 / T E S 1 of Distal-less family, assignment to conserved regions on human and murine chromosome 2, 13, 1157

containing gene HOX4E, cloning, sequencing, and expression: strong expression in adult urogenital t ract (human), 13, 425

Dbx gene, genetic mapping to chromosome 7 (mouse), 14, 1107 Homogeneously staining region

germline, in chromosome 1, relationship to long-range repeat cluster (Mus musculus), 12, 80

Homology X-Y, associated region on human Y chromosome, detection by

DXS89 (pTAK10), 14, 554 Hormone receptors

encoding genes on distal 5q, radiation hybrid map (human), 13,803 Human endogenous retrovirus

HERV-A, LTR banding profiles in 24 chromosomes in somatic cell hybrids, 13, 461

Human Genome Project chromosome 1 lp: generation of ordered sets of cosmid DNA clones,

13, 89 efforts in Japan as of 1991, program description, 12, 618 Genome Sequencing Conference III, meeting report, 12, 419

Human immunodeficiency virus type 1, enhancer binding protein HIV-EP2, gene mapping to 6q23-

q24 (human), 12, 167 Hunter syndrome

associated deletion and point mutations, characterization in six patients, 13, 543


human cDNA clones for, genetic mapping on murine X chromosome, 12, 814

iduronate sulfatase gene in patients, identification of heterogeneous deletions, 12, 52

Hunt ington disease associated gene region on chromosome 4

radiation hybrid map spanning (human), 13, 1040 candidate region and 4p16.3 region, sequence-tagged sites span-

ning, 13, 75 4p16.3, gene number est imation and identification of 13 t ran-

scripts (human), 13, 1108 t ight linkage to rod photoreceptor cGMP phosphodiesterase

~-subunit gene at 4p16.3, 12, 750 locus on chromosome 4

centromeric localization of D5 dopamine receptor gene to 4p15.1- p15.3 (human), 12, 510

and two loci separated by 3 Mb on 4p16.3, nonrandom association between, 13, 301

Hybridization Alu-PCR, differential, on chromosome 22-specific library, in rapid

isolation of cosmids from defined subregions (human), 13, 395 fluorescence in situ, see Fluorescence in situ hybridization in situ

competitive, with cDNA, in assignment of heterogeneous nuclear ribonucleoprotein core protein A1 gene to 12q13.1 (human), 12, 171

derived data, statistical analysis: derivation and application of Zma~ test, 12, 675

in developmental control gene PAX1 mapping to 20p11.2 (human), 14, 740

in DNA polymerase 5 gene mapping to 19q13.3-q13.4 (human), 14, 205

in growth arrest-specific gene Gas-1 mapping to chromosome 13 bands B3-C2 (mouse), 14, 548

in inositol 1,4,5-trisphosphate 3-kinase A and B gene mapping to 15q14-q21 and lq41-q43 (human), 14, 546

isotopic and nonisotopic, in a2-macroglobulin receptor gene as- s ignment to murine chromosome 15 and human 12q13-q14, 13, 472

in marsupials and monotreme, derived evidence relating to human chromosome 21 evolution, 13, 1119

multicolor, in kerat in 5 gene assignment to 12q near D12S14 (human), 13, 452

in myc-like sequence MYCLK1 mapping to 7p15 (human), 13, 449

nonradioactive, in assignment of human T Y R P (brown) locus to 9p23, 13, 227

nucleic acids to arrays of oligonucleotides for sequence analysis and comparison, 13, 1008

in propionyl-CoA carboxylase a-chain gene mapping to 13q32 (human), 14, 550

in receptor- l inked prote in- tyrosine-phosphatase gene assignment to 20p12-pter (human), 13, 906

in refinement of chromosome 13 assignments of polymorphic loci (human), 12, 852

Hybrid mapping radiation hybrid, chromosome 22 region containing neurofibroma-

tosis type 2 locus (human), 14, 574 somatic cell, in sublocalization of manganese superoxide dismutase

gene to 6q25 (human), 14, 823 Hybrids

human-hams te r cell line UCTP2A-3, in mapping 3p breakpoints and refinement

of 18 marker assignments in human 3cen-p21.1 region, 14,891 in radiation hybrid mapping of chromosome 22 region containing

neurofibromatosis type 2 locus, 14, 574 human-rodent , fluorescent PCR products from, in chromosomal

assignment of brain-expressed sequence tags (human), 14 ,808

radiation comparative PCR analysis, for isolation of DNA markers in vi-

cinity of incont inent ia pigment 1 locus, 14, 649 in genetic mapping

chromosome X proximal shor t arm spanning incont inent ia pigmenti 1 translocation breakpoints (human), 14, 657

markers in murine agouti locus, 13, 731 min imum breaks method, stat ist ical propert ies and applica-

tion, 13, 95 with multiple human fragments, Alu-PCR-based characteriza-

t ion and generation of Xp21.3-p22.2 markers from, 12, 368 in PCR analysis for isolation of DNA markers from region be-

tween incont inent ia pigment 1 X-chromosomal translocation breakpoints, 14, 649

radiation-reduced cell line containing 5 Mb/17 cM human DNA from 9q34, cre-

ation, 13 ,841 for mapping of myotonic dystrophy locus, production, 13, 243

somatic cell in assignment of slow skeletal t roponin T gene to 19q13.4 (hu-

man), 13, 1374 containing fragments of human chromosome 112p, generation by

X irradiation and cell fusion, 12, 206 in creation of deletion map of chromosome 18 (human), 13, 1 in fine mapping ofbiglycan genewithin Xq28 region (human), 13,

481 and FISH, in physical mapping of chromosome 20 markers (hu-

man), 14, 532 in keratin 5 gene assignment to 12q near D12S14 (human), 13,

452 in mapping of

l lq13 loci relative to regional chromosomal breakpoints (human), 12 ,738

superoxide dismutase genes EC-SOD and SOD1L (bovine), 12, 610

mapping panel for assignment of NotI l inking probes to human chromosome 6

long arm, development, 12, 542 chromosome 6-specific, AIu-PCR characterization, 12, 549 for proximal 17p, construction, 13 ,551 for regional mapping of human chromosome 18, 14, 431

PCR amplification from, in mapping acetylcholinesterase gene to 7q22 (human), 13, 1192

PCR analysis, in assignment of human a2-plasmin inhibitor gene to 17pter-p12, 13, 213

radiation-reduced, in sublocalization of 1001 markers on chromosome 11 (human), 13, 1133

ra t×mouse, derived DNA, Southern blot analysis, in chromosomal assignment of structural genes and related DNA fragments (rat), 12 ,659

in regional mapping of t rophoblast antigen-related and other sequences to human chromosome 6q, 12, 693

single-strand conformat ion polymorphism analysis, in assignment of rat linkage group V to chromosome 19, 12, 350

24 chromosomes, LTR banding profiles of human endogenous retrovirus HERV-A, 13, 461

X;autosome translocat ions, PCR analysis, in mapping human erythroid 5-aminolevulinate synthase to Xpl l .21 distal subregion, 13, 211

Hydrocephalus X-linked, gene mapping to Xq28 distal to DXS52 (human), 14, 508

Hyper-IgM syndrome X-linked form, associated gene HIGM1, mapping to Xq26 by close

linkage to H P R T (human), 14, 551 Hyperoxaluria

type 1, primary, loss of alanine-glyoxylate aminotransferase catalytic activity in subset of pat ients with, role of Gly-to-Glu substitution, 13, 215


Hyperphenylalaninemia nonphenylketonuria, molecular basis, 14, 1

Hyperthermia malignant, susceptibility, see Malignant hyperthermia susceptibil-

ity Hypoxanthine phosphoribosyltransferase

gene deletions, nucleotide sequence analysis in Werner syndrome fibroblasts and HL60 cells, 13, 777

gene duplications, molecular structure and genetic stability, 13,788

]

Iduronate sulfatase encoding gene, isolation of 1.2-Mb YAC contig spanning locus and

identification of heterogeneous deletions in Hunter syndrome patients, 12, 52

a-L-Iduronate sulfate sulfatase gene deletions and point mutations, detection in Hunter syndrome

patients, 13, 543 L-Iduronidase

encoding gene and associated mutat ion underlying canine mucopolysaccharido-

sis I, architecture, 14, 763 86-bp VNTR in, identification as basis for D 4 S l l l polymorphic

locus (human), 14, 1119 structure and sequence (human), 13, 1311

~-L-Iduronidase, see L-Iduronidase Immunoglobulins

C H gene family in hominoids, gene organization and evolutionary history, 13, 194

gene superfamily CTLA4 and CD28 genes, molecular linkage in YACs (human),

13, 856 pregnancy-specific glycoprotein subgroup, identification of

members and family size estimation (human), 12, 780 kappa light chain, PCR-based allotyping: allelic association of Km

with kappa variable segment, 13, 104 lambda constant region, analysis with shotgun PCR-based construc-

t ion of clone libraries specific to chromosome 22 Not I fragment (human), 13, 109

Imprint ing genomic, see Genomic imprint ing

Inactivation center on X chromosome, Rps4 mapping in vicinity (mouse), 12, 363

Incont inent ia pigmenti 1 associated X chromosomal translocation breakpoints

proximal Xp arm spanning, radiation hybrid map (human), 14, 657

regional DNA markers, isolation by comparative radiation hybrid PCR analysis, 14, 649

Informativeness combined, muscle glycogen phosphorylase locus, increase to PIC

0.95 with identified mini- and microsatellite within 1.5 kb (human), 13, 7

Inositol 1,4,5-trisphosphate 3-kinase A and B isozyme genes, in si tu hybridization mapping to 15q14-q21

and lq41-q43 (human), 14, 546 Inserts

YAC, walking with sequence-tagged sites from end fragments of, in mapping human chromosomes, 14, 241

Insulin type 2, encoding gene, and tub, localization to distinct regions of

murine chromosome 7, 14, 197 Insulin receptors

encoding gene exon 3, juxtaposed short sequence repeat types and haplotypes

near: Mexican American population, 12, 842 high-frequency DNA polymorphisms, detection by denatur ing

gradient gel blots (human), 12, 705

Integrins al chain gene Vlal , genetic mapping to murine chromosome 13, 14,

503 Interferons

associated region on chromosome 9p, genetic and physical map (human), 14, 105

inducible genes IFI-56K and IFI-54K, mapping to 10q23-q24 (human), 13, 458

Inter-a- inhibi tor and pre-a-inhibitor, family, homologous gene chromosomal loca-

t ions in human and mouse, 14, 83 Interleukin-5

gene mapping to 3q mid-region (owl monkey), 13, 1174 Interleukin-6

signal transducing molecule gpl30, molecular cloning and characterization (rat liver), 14, 666

In te r leukin- l l encoding gene, genomic sequence and chromosomal localization

(human), 13, 814 Interleukin-12

subunits p35 and p40, gene mapping to 3p12-q13.2 and 5q31-q33 (human), 14, 59

Interleukin-1 receptor antagonist encoding gene I L I R N , mapping to 2q14-q21 in region of IL - l a and

IL-1/~ loci (human), 13 ,654 Interleukin-2 receptors

chain, gene assignment to band E on chromosome 15 (mouse), 12, 179

Inter leukim5 receptors subunit gene, localization to 3p24-p26 (human), 14, 755

gene localization to chromosome 6 distal half with recombinant inbred murine strains, 12, 855

Interleukin-8 receptors types 1 and 2, encoding genes, and IL8 receptor pseudogene, assign-

ment to chromosome 2q35 (human), 14, 685 Intermarker distance

and marker heterozygosity, relative importance in gene mapping, 13, 951

Interphase associated aneuploidy detection by FISH technique, failure in, role

of variations in alphoid DNA sequences (human), 14, 113 Introns

containing ribosomal protein genes, chromosomal mapping: no linkage detection (human), 13, 201

Inverted repeats telomeric, arrays at 2q13, mapping distal to FRA2B (human), 12,

833 L-Isoaspartyl/D-aspartyl protein methyltransferase, see Protein-L-

isoaspartate(D-aspartate) O-methyltransferase Isodisomy

uniparental, role of duplication of chromosome 21 in somatic cells monosomic for chromosome 21 (human), 13, 269

Junct ions between genes in haptoglobin gene cluster of Old World primates,

analysis (chimpanzee), 14, 948

K

Kallikrein gene locus, characterization (human), 14, 6

Karyotype normal, multiple var iants in subtelomeric regions (human), 14,

1019 s tandard bivariate flow, establishment, and peak assignment for

chromosomes X, Y, 3, and 7 (pig), 14, 357


Keratins type 5 ({(type II class))), gene assignment to 12q near D12S14 by

PCR analysis of somatic cell hybrids and multicolor in situ hybridization (human), 13, 452

Kinesins related gene, localization to band 10q24 by FISH (human), 13, 1371

Knowledge base construction for prediction of protein localization sites in eukaryo-

tic cells, 14, 897 KRAB, see Kriippel-associated boxes Kr~ippel-associated boxes

zinc finger genes containing, identification and character izat ion (human), 12, 581

k

Lactogen placental , and prolact in-related proteins, somatic cell mapping,

polymorphism, and linkage analysis (bovine), 14, 137 Lesch-Nyhan syndrome

derived hypoxanth ine phosphoribosyl t ransferase gene duplications, molecular structure and genetic stability, 13, 788

Leucine zippers associated DNA binding protein CDR62, gene mapping in situ to

16p12-p13.1 (human), 13, 1340 domain in gene encoded in gene cluster upstream of HRAS1 (hu-

man), 14, 309 neural retina-specific, encoding gene NRL, mapping to 14q11.1-

q l l . 2 (human), 14, 491 Leukemia

acute myeloid, associated AML1 gene, linkage mapping on chromosome 21 with DNA polymorphism in 3' un t rans la ted region (human), 14, 506

acute nonlymphocytic, chromosome 16 regions associated with breakage/rearrangement in, mapping of chromosome 16-specific repetitive DNA sequences (human), 13, 332

familial, associated with monosomy 7, pathogenenesis, role of heterozygous deletion of chromosome 7 (human), 14, 121

lymphoblastic, associated regions, mapping of NF-KB related subuni t genes NFKB1 and NFKB2 (human), 13, 287

Libraries, see also DNA libraries yeast artificial chromosome

automatable screening based on oligonucleotide-ligation assay, 13, 935

containing 1.5 equivalents of human chromosome 21, construc- t ion and characterization, 14, 481

stable, contruct ion and character izat ion (Plasmodium falciparum), 14, 332

for Xpter-Xq27.3, construction and characterization (human), 12, 526

yeast and bacterial, ordered, automated gridding for screening, development and application, 12, 534

LINE-1 repeats with CpG island extensively methlated only on active X chromo-

some, detection in hypervariable DXS255 locus (human), 14, 598

in rabbit DNA, 5' ends, definition of subfamilies: short sequence conserved between rabbits and humans, 14, 320

Linkage physical, nicotinic receptor genes for subunits ~ , as, and f14 on chro-

mosome 15 (human), 12, 849 Linkage analysis

Charco t -Mar ie -Tooth disease CMT1 loci on chromosomes 1 and 17 and CMT2 pedigree, 12, 155

chronic childhood-onset spinal muscular atrophy: confirmation of close linkage to D5S39 in French Canadian families, 14, 188

in confirmation of GABA n receptor a l - subun i t gene mapping to distal 5q (human), 14, 745

conservat ion of order among A2M, HOX3, INT1, KRAS2, and PAH loci on bovine chromosome 5: comparison with human chromosome 12, 14, 38

data errors, systematic detection, 14, 604 D 2 dopamine receptor and NCAM genes on chromosome 11q23 (hu-

man), 14, 1010 dominant white color gene: linkage to ALB and PDGFRA on chro-

mosome 8 (pig), 14, 965 familial melanoma locus and chromosome lp: MLM locus exclusion

from lp regions PND/D1S47 and MYCL1 in Australian pedigrees, 12, 18

genetic, olfactory marker protein gene and murine deafness muta- t ion shaker-l: close linkage, 13, 189

highly polymorphic locus DXS455 in proximal Xq28 for, isolation and characterization (human), 12, 710

hypokalemic periodic paralysis, exclusion from three candidate loci (human), 14, 493

limb-girdle muscular dystrophy: confirmation of linkage to chromosome 15 (human), 13, 1370

linkage heterogeneity between C3 and LDLR loci and APOA4 and APOA1 loci in baboon, 14, 43

malignant hyperthermia susceptibility adult muscle sodium channel a-subuni t as gene candidate (hu-

man), 14, 829 apparent exclusion from RYR1 locus on 19q13.1 (human), 14,

749 evidence for localization of MHS2 locus to 17q (human), 14 ,562

in mapping of AML1 gene on chromosome 21: genotyping for DNA polymor-

phism in 3' unt rans la ted region (human), 14, 506 D8S 133 locus to chromosome 8p with highly informative polymor-

phic complex dinucleotide repeat (human), 13, 232 homeobox gene Dbx to chromosome 7 (human), 14, 1107 TIMP-2 locus to chromosome 11 (mouse), 14, 828

nonrhodopsin autosomal dominant retinitis pigmentosa in affected families, exclusion of chromosome 6 and 8 locations, 14, 191

prolactin and BoLA-DRB3 genes: single sperm typing (bovine), 13, 44

prolactin-related proteins and placental lactogen (bovine), 14, 137 ra t chromosome 10 polymorphic loci comprising single linkage

group: linkage conservation with human chromosome 17 and murine chromosome 11, 14, 618

with recombinant inbred murine strains, in localization of interleukin-5 receptor gene to chromosome 6 distal half (mouse), 12, 855

reference data, error detection and mapping in, interactive program CHROMLOOK for, 14, 517

in reference pedigrees, in mapping bovine markers CYP21, PRL, and BOLA DRBP1, 14, 526

spinal muscular atrophy (human), 12, 335 telomeric MHC region in 6p21.3, relevance to primary hemochro-

matosis gene (human), 14, 232 Usher syndrome type 1: exclusion results from Usher Syndrome

Consortium, 14, 707

X-linked amelogenesis imperfecta: genetic heterogeneity (human), 14, 567

X-linked congenital s tat ionary night blindness (human), 14, 99 X-l inked hydrocephalus families, with polymorphic markers for

Xq28 region: gene mapping distal to DXS52 (human), 14, 508

Linkage groups V, ass ignment to chromosome 19 by single-strand conformation

polymorphism analysis of somatic cell hybrids (rat), 12, 350

Linkage map chromosome 9 microsatellite polymorphisms (human), 12, 607 chromosome 10 microsatellite polymorphisms (human), 12, 604 chromosome 15q, produced from CEPH Consortium database, 14,

833


chromosome 21 carbonyl reductase gene mapping with DNA polymorphism in 3'

untranslated region (human), 13, 447 polymorphic tetranucleotid¢ (TAAA). repeats (human), 14, 1071

familial melanoma gene MLM, with 172 microsatellite markers (human), 14, 939

Lipoprotein lipase encoding gene, exon 6 Asp25°-~Asn missense mutation, identifica-

tion as cause of chylomicronemia in patients of different ancestries, 13,649

Long terminal repeats human endogenous retrovirus

HERV-A, banding profiles in 24 chromosomes in somatic cell hybrids, 13, 461

HERV-H, cellular transcripts promoted by, detection: CDC4L gene with homology to yeast CDC4, 13, 1237

Low-density lipoprotein receptors encoding gene LDLR, linkage heterogeneity with C3 (baboon), 14,

43 Lymphocytes

blood, monosomic for chromosome 21, duplication of chromosome 21 in, role in uniparental isodis0mY (human), 13, 269

T, see T cells Lysine carboxypeptidase

encoding gene CPB2, mapping to chromosome 13 (human), 14,549 Lysophospholipase

associated eosinophil Charcot-Leyden crystal protein, gene localization to chromosome 19 (human), 13,240

Lysyl hydroxylase, see Procollagen-lysine,2-oxoglutarate 5-dioxygenase

Lysyl oxidase, see Protein-lysine 6-oxidase

M

Machado-Joseph disease locus, linkage with 6p markers: exclusion of linkage to spinocerebel-

lar ataxia SCA1 region (human), 13, 852 a2-Macroglobulin receptors

encoding gene, assignment to murine chromosome 15 and human 12q13-q14, 13,472

Macrophages mannose receptor gene, organization (human), 14, 721

Malate dehydrogenase (oxaloacetate-decarboxylating) (NADP +) cDNA, as probe in detection of cross-hybridizing sequences closely

linked to loci encoding other metabolic enzymes (mouse), 12, 405

Malic enzyme, see Malate dehydrogenase (oxaloacetate-decarboxylating) (NADP +)

Malignant hyperthermia associated ryanodine receptor gene in patients, coding sequences,

polymorphisms and deduced amino acid substitutions in, 13, 1247

probable causal mutation, diagnostic assays for, refinement (human, pig), 13, 835

Malignant hyperthermia susceptibility adult muscle sodium channel a-subunit as gene candidate (human),

14, 829 associated locus

apparent exclusion from RYR1 locus on 19q13.1 (human), 14, 749

MHS2, evidence for localization to 17q (human), 14, 562 Mannose receptors

macrophage, encoding genes, organization (human), 14, 721 a-l,3-Mannosyl-glycoprotein fl- 1,2-N-acetylglucosaminyltransferase

gene cloning and characterization (mouse), 12, 699 Mapping panels

somatic cell hybrid

for assignment of Not I linking probes to human chromosome 6 long arm, development, 12, 542

chromosome 6-specific, A l u - P C R characterization, 12,549 Marsupials

and platypus, derived in si tu hybridization evidence relating to human chromosome 21 evolution, 13, 1119

MCP, see Proteins, membrane cofactor-like Meeting reports

Chromosome 4 Workshop report, 12,857 First South-North Human Genome Conference, 14, 1121 Genome Sequencing Conference III: Evolution and Progress, 12,

419 Mouse Genome Project and Human Genetics, 13, 490 Proceeding of Second International Chromosome 22 Workshop,

14, 1123 Report of Second Chromosome 11 Workshop, 12, 620 Sequencing by Hybridization Workshop, 13, 1378 Third International Workshop on Human Chromosome 21, 14,

1125 Meiosis

associated crossing over, within murine Eb recombination hot spot, role of nucleotide sequence identity, 13, 1334

Meiotic mapping panel high-resolution, for chromosome 10 pericentromeric region, con-

struction (human), 13, 607 Melanin-concentrating hormone

precursor, gene assignment to human chromosome 12q and rat chromosome 7, 12, 846

Menkes syndrome in female patient, associated breakpoint, fine mapping and cloning,

14, 557 Mental retardation

associated fragile X and Hunter syndromes, human cDNA clones for, genetic mapping (mouse), 12, 814

fragile X-linked, implicated FMR1 gene, mapping on murine X chromosome, 12, 818

MEPS for use of recombination in construction of ordered sets of overlap-

ping clones, 13, 1065 Metabolic enzymes

encoding loci, close linkage to sequences cross-hybridizing with malic enzyme probe (mouse), 12, 405

Methylation differential, DXS255 CpG island (human), 14, 598 DNA, see DNA methylation DXS255 hypervariable locus 5' CCGG site, role of factors other than

X-inactivation status (human), 14, 70 Microchromosomes

nerve growth factor fl mapping in si tu (chicken), 12, 829 Microdissection

chromosomal material, subsequent sequence-independent amplification, 13, 1322

chromosomal regions 8q23.3-q24.11 and 2q33-qter (human), 13, 349

chromosome 6q21-targeted, in generation of genomic clones specific for malignant melanoma deletion region (human), 14, 680

obtained region-specific library from 2q35-q37, construction and characterization (human), 14, 769

Microsatellites (AC)n, genetic markers from chromosome 16, isolation and charac-

terization (human), 13, 402 CA repeat, at T cell receptor ~ chain locus, YAC-based identifica-

tion (human), 13, 820 in CFTR gene, multiplex PCR amplification (human), 13, 1362 chromosome 9, linkage mapping (human), 12, 607 chromosome 10, linkage mapping (human), 12, 604 chromosome 15, mapping (human), 13, 903


corresponding DNA markers, in construction of chromosome 20 genetic linkage map (human), 12, 183

(CpG) n repeats, frequency compared to other microsatellites, analysis in major classes of organisms, 13, 890

(dG-dT) n. (dC-dA),, variable, in porcine genome, correlation with human, 12, 281

genetically stable polydisperse repeats homologous to sea urchin TU elements, applicability in RFLP analysis (mouse), 12, 357

GT dinucleotide repeat, highly polymorphic region-containing, near first exon of monoamine oxidase gene, characterization (human), 13, 896

human and rat, survey, 12, 627 in linkage mapping of familial melanoma (human), 14, 939 loci, genotyping: application of automated DNA sizing technology,

14, 1026 MAF45 highly polymorphic marker for pseudoautosomal region of

sheep genome, absence of linkage to FecX 1 Inverdale gene, 13, 849

markers covering human chromosome 18, identification and localization, 14, 1095

and minisatellite, detection within 1.5 kb in muscle glycogen phosphorylase locus: PIC 0.95 combined informativeness (human), 13, 7

repeats, markers near RYR1 locus on 19q13.1, physical mapping: apparent exclusion of malignant hypertherma susceptibility locus, 14, 749

(TG)~(AG)m, in apolipoprotein C-II gene, allele frequency distribution (human), 12, 63

Minisatellites alleles detectable only after PCR amplification, description (hu-

man), 12, 116 and microsatellite, detection within 1.5 kb in muscle glycogen phos-

phorylase locus: PIC 0.95 combined informativeness (human), 13, 7

synthetic probes for, in detection of polymorphic loci in complex genomes, 12, 454

unusual, in platelet-derived growth factor A chain gene on 7p22, description (human), 13, 257

Minisequencing solid-phase, see Solid-phase minisequencing

Mismatch repair enzymes in detection of single DNA base mutations (human), 14, 249

Mitosis coupling to DNA replication, associated RCC1 gene, complete nu-

cleotide sequence, 11,459; erratum, 12, 181

Models stochastic, base compositional structure of genomes (Escherichia

coli, human), 13, 1056

Monoamine oxidase, see Amine oxidase (flavin-containing)

Monosomy 7 associated familial leukemia, pathogenenesis, role of heterozygous

deletion of chromosome 7 (human), 14, 121 Monotremes

and marsupials, derived in situ hybridization evidence relating to human chromosome 21 evolution, 13, 1119

MOPAC technique in cross-species PCR cloning of sulfatase gene family (human,

mouse), 12, 755 Morphogenesis

bone, associated protein subfamily, chromosomal localization: BMP5, BMP6, and BMP7 genes (human), 14, 759

Motoneuron disease associated wobbler mutation gene, mapping to proximal chromo-

some 11 (mouse), 13, 39 Motoneurons

degeneration, associated gene M n d , mapping (mouse), 13,797

Mucopolysaccharidosis type I canine, underlying a-L-iduronidase gene mutation, analysis, 14,

763

Mullerian inhibiting substance encoding gene, isolation (rat), 12, 665

Multifactorial disease genetic predisposition, delineation by VAPSE-based association

studies, review, 12, 1 Multiple endocrine neoplasia

type 1 human chromosome 11 region including, comparative mapping

relationships with routine chromosome 19, 14, 26 locus M E N 1 , associated 11q13 region, 14-Mb physical map (hu-

man), 13, 16 type 2A

associated pericentromeric region of chromosome 10 high-resolution meiotic mapping panel (human), 13, 607 isolation and high-resolution mapping of DNA markers (hu-

man), 13, 601 encoding gene M E N 2 A

candidate gene identification and characterization at D10S94 (human), 13, 344

detection of CpG island cluster at DIOS94, 13, 339 identification potential of RFLP systems detected by chromo-

some 10 DNA markers (human), 12,401 tightly linked locus D10S102, physical map of surrounding 950-

kb region (human), 12, 394 types 2A and 2B

associated chromosome 10 pericentromeric region, localization of zinc finger gene cluster (human), 13, 845

disease screening in affected families, implications of additional D10S94 RFLPs and PCR-based variant detection systems, 13, 233

Muscles skeletal, dihydropyridine-sensitive calcium channel a~-subunit

gene, mapping to chromosome 1 (mouse), 14, 1089 smooth, cellular expression of thrombospondin II gene (human),

12,421 Muscular atrophy

spinal, see Spinal muscular atrophy

Muscular dystrophy Duchenne, complete gene, YAC contig containing, construction

(human), 12, 465 golden retriever, homologous to Duchenne MD, detection of dystro-

phin mRNA processing error, 13, 115 limb-girdle

associated chromosome 15 microsatellites, mapping (human), 13, 903

type 2, linkage to chromosome 15, confirmation (human), 13, 1370

Mutations agouti locus, surrounding region on murine chromosome 2, radia-

tion hybrid mapping panel for, 13, 731 amino acid substitutions, identification in ryanodine receptor gene

coding sequences in malignant hyperthermia patients, 13, 1247 Asn187, in gelsolin gene in Finnish-type familial amyloidosis, homo-

zygosity, association with severe renal disease, 13, 902 AsplsT-~Asn (G654-~A), in gelsolin gene, detection in all Finnish

type familial amyloidosis individuals by solid-phase minisequencing, 13, 237

A to T transversion at position - 5 of factor IX promoter, association with hemophilia B, 12, 161

autosomal dominant retinitis pigmentosa, identification at peripherin/RDS locus in original 6p-linked pedigree (human), 14, 805

blind-sterile, encoding gene, genetic localization on chromosome 2 in relation to Hao-1 and Emv-13 (mouse), 12, 403


cystic fibrosis, identification by analysis of CFTR coding regions and splice site junctions (human), 13, 770

deletion, see Deletions de novo splice site, causing recurrent venous thrombosis, detection

in ant i thrombin III gene: exon skipping (human), 13, 1359 detection with dideoxy fingerprinting: human factor IX gene muta-

tions, 13, 441 factor VIII gene, detect ion with single-stranded conformational

polymorphism (human), 13, 909 frameshift, identification in exon 4 of CFTR gene (human), 12,854 G654 --~ A, in gelsolin gene, associated with familial amyloidosis,

Finnish type, identification in Finnish families and unrelated American family, 13, 898

galactose- l -phosphate uridyltransferase gene, Q188R, identifica- t ion in galactosemia patients, 14, 474

a-galactosidase A gene, Fabry disease-associated, g+l to t substitu- t ion in 5'-splice site causing invar iant exon skipping in pre- mRNA (human), 12, 643

germ line, inactivating, at adenomatous polyposis coli gene, identification (human), 13, 1162

Gly-to-Glu substitution, induction of loss of alanine-glyoxylate aminotransferase catalytic activity in subset of pat ients with primary hyperoxaluria type 1, 13, 215

hypoxanthine phosphoribosyltransferase gene duplications, molecular structure and genetic stability, 13, 788

a-L-iduronidase gene, underlying canine mucopolysaccharidosis I, analysis, 14, 763

insertional, in line 4 t ransgenic mice, associated locus, genomic structure, 13, 159

missense in aspartylglucosaminuria gene in Finland, frequency analysis

with solid-phase minisequencing, 12 ,590 Asp25°--~Asn, in exon 6 of lipoprotein lipase gene, identification as

cause of chylomicronemia in pat ients of different ancestries, 13, 649

in galactose-l-phosphate uridyltransferase, characterization: different molecular mechanisms for galactosemia, 12, 596

phenylketonuria, identification among Chinese, 13, 894 motor neuron degeneration, gene Mnd, mapping (mouse), 13, 797 nonphenylketonuria hyperphenylalaninemia-causing, analysis, 14,

1 nonsense, in S R Y , association with XY sex reversal (human), 13,

838 nonsense and splicing, description in exon 19 of cystic fibrosis

t ransmembrane conductance regulator gene (human), 12, 417 orni thine aminotransferase gene, in gyrate atrophy, identification

(human), 14, 553 pericentric inversions in leukemia cells, associated chromosome 16

regions, localization of chromosome 16-specific repetitive DNA sequences (human), 13, 332

phenylketonuria-associated, identification in Chinese patients: evidence for recombination or recurrent mutat ion at phenylalanine hydroxylase locus, 13, 230

point, detection in Hunter syndrome patients, 13, 543 orni thine 6-aminotransferase gene with strand-separating con-

formational polymorphism analysis (human), 13, 389 probable causal for human and porcine malignant hyperthermia,

diagnostic assays for, refinement, 13, 835 shaker- I , deafness-associated, close linkage to olfactory marker

protein gene, 13, 189 single base subst i tut ions, detection as heteroduplex polymor-

phisms, 12 ,301 single DNA base, detection with mismatch repair enzymes (hu-

man), 14, 249 si tus inversus viscerum, determining lef t - r ight symmetry, asso-

ciated iv gene, duplication/deficiency mapping (mouse), 14, 643

Smal l eye, associated murine homolog of human aniridia cDNA, cloning and characterization, 13, 251

splice-site, associated dystrophin mRNA processing error in golden retriever muscular dystrophy homolog of Duchenne MD, 13, 115

~-thalassemia gene, detection at IVS-1 3' end: G-C substitution involving AG invariant dinucleotide at acceptor splice site, 13, 234

wobbler, affecting motoneuron survival and gonadal functions, mapping to proximal chromosome 11 (mouse), 13, 39

X;autosome translocations, PCR analysis of somatic cell hybrids with, in assignment of human erythroid 5-aminolevulinate synthase to Xp11.21 distal subregion, 13, 211

Myosin type a, cardiac, heavy chain coding sequences from four strains,

allelic differences (mouse), 13, 176 ventricular, regulatory light chain gene, localization to 12q23-q24.3

(human), 13, 829 Myotonic dystrophy

associated locus on chromosome 19% cosmid and YAC contig con- ta ining markers tightly linked to, characterization, 13, 526

associated region of 19q distal segment, physical and genetic characterization, 13, 509 proximal segment, physical mapping and cloning, 13, 518

gene mapping, production of radiation-reduced hybrids for, 13,243

NADH dehydrogenase (ubiquinone) mitochondrial, 51-kDa subunit gene, mapping adjacent to glutathi-

one S-transferase P1-1 gene on 11q13 (human), 14, 1117 NADH:ubiquinone oxidoreductase, see NADH dehydrogenase (ubi-

quinone) Nail-patella syndrome

locus at 9q34, mapping of collagen gene COL5A1 in vicinity of 9q34.2-~q34.3 (human), 12, 836

N-CAM, see Neural cell adhesion molecule Neoplasia, see also Tumors

associated deletions of chromosome 9 short arm, shortest region of overlap, mapping (human), 14, 437

multiple endocrine, see Multiple endocrine neoplasia Nephrogenic diabetes insipidus

associated gene, and vasopressin type 2 receptor gene, colocaliza- t ion in Xq28 region (human), 13, 1350

Nerve growth factor/~ encoding gene, in s i tu mapping to microchromosome (chicken), 12,

829 Neural cell adhesion molecules

encoding gene on 11q23, structure and linkage to D 2 dopamine receptor gene (human), 14, 1010

gene promoter region, conserved regulatory elements (chicken), 14, 875

Neurofibromatosis type 1 associated gene

construction of YAC contig encompassing, 13, 672 identification on chromosome 15 (human), 13, 1316 intron, mapping of human adenylate kinase 3 pseudogene to, 13,

537 nearby mapping of epidermal antigen gene M17S1 (human), 14,

369 Neurofibromatosis type 2

associated gene NF2, chromosome 22 region containing, radiation hybrid map (human), 14, 574

Neurotoxins eosinophil-derived, encoding gene RNS3, localization to chromo-

some 14 (human), 13, 240 Neurotransmit ter receptors

encoding genes on distal 5q, radiation hybrid map (human), 13,803


Neurotrophic factors brain-derived, encoding gene, mapping between FSHB and HVBS1

at boundary of 11p13-p14 (human), 13, 1331 Nicotinic receptors

neuronal, subunits a3, a~, and f14, chromosomal localization and physical linkage (human), 12, 849

Night blindness X-linked congenital s tat ionary

encoding locus CSNB1, mapping proximal to DXS7 (human), 12, 409

linkage analysis study (human), 14, 99 Nitric-oxide synthase

cerebral, gene localization to 12q14-qter (human), 14, 802 Nuclear factors

NF-IL6, encoding gene CEBPB, mapping to 20q13.1: mapping of related CEBPA to 19q13.1 (human), 14, 12

Nucleoproteins t ransi t ion protein 2, encoding gene, nucleotide sequence, assign-

ment to protamine gene cluster, and evidence for low expression (human), 14, 377

Nucleotide sequence acid sphingomyelinase gene SMPD1 (human), 12, 197 adenylate kinase 3 gene AK3 cDNA and pseudogene on chromo-

some 17, comparison, 13, 537 aldehyde dehydrogenase pseudogene (human), 13, 465 alpha satellite DNAs on chromosomes 10 and 12, comparison (hu-

man), 13, 1125 annexin IV cDNA (human), 12 ,313 anonymous Alu repeats on chromosome 11 (human), 12, 139 Apoa-1/Apoc-3 gene complex, comparison with other species

(mouse), 14, 1081 apolipoprotein C-I cDNA and gene (baboon), 13, 368 arylsulfatase B cDNA (cat), 14, 403 A T P 2 B 2 gene encoding Ca2+-pumping ATPase isoform PMCA2

(human), 14, 484 carboxyl ester lipase gene and related gene (human), 13, 630 carcinoembryonic antigen genes, al ignment: identification of

CGM9, -10, and -11 (human), 14, 384 cardiac potassium channel gene KCNA1 (human), 12, 729 ~-casein gene: exon skipping in encoded mRNA (human), 12, 13 CD34 exons, in t ron/exon junctions, and 5' flanking sequence (hu-

man), 12, 788 cellular DNA binding protein ILF cDNA: ILF-1 and ILF-2, 13,665 choline acetyltransferase gene (human), 12, 412 chromosome 3 insertional mutation-associated locus in line 4 trans-

genic mice, 13, 159 chromosome 7 centromeric region: DNA structure near alpha satel-

lite long tandem arrays (human), 14, 912 chromosome 8-specific alpha satellite DNA (human), 13, 585 creatine kinase B gene and related pseudogenes, comparison with

human and rat (mouse), 12, 340 CREB gene and promoter (mouse), 13, 974 2',3'-cyclic-nucleotide 3'-phosphohydrolase gene, most downstream

intron sequence (human), 13, 877 cyclin B1 cDNAs (mouse), 13, 1018 cyclin D2 and D3 cDNA (human), 13, 575 cystic fibrosis gene coding region: detection of 22-bp deletion, 13,

235 cystic fibrosis t ransmembrane conductance regulator gene

in mouse, 13, 381 in rat, 14, 869

DRB genes (gorilla), 14, 340 fragments from cosmid clones around locus D10S102 tightly linked

to MEN2A gene, comparison (human, rat), 12 ,394 a-L-fucosidase gene and pseudogene (human), 12, 276 GABA receptor subunit rho 2 cDNA (human), 12, 80l GM2 activator protein gene and pseudogene (human), 14, 796 galactose-l-phosphate uridyltransferase gene (human), 14, 474

genomic clones containing 4.5 S RNA sequences: var iant genes and pseudogenes (mouse), 12, 555

~-globin 41-kb gene cluster of prosimian primate galago, 13, 741 glucocerebrosidase gene flanking regions (human), 12 ,795 HF.10 zinc finger gene and flanking regions (human), 12, 720 HOX4E gene (human), 13, 425 HSPA6 and HSPA7 genomic DNA on chromosome lq, comparison

(human), 12, 74 hypoxanthine phosphoribosyltransferase gene

deletions in Werner syndrome fibroblasts and HL60 cells, 13, 777

duplication junct ions (human), 13, 788 Icam-1 gene (mouse), 14, 1076 a-L-iduronidase gene

in human, 13, 1311 and mutation, in canine mucopolysaccharidosis I, 14, 763

Ig heavy chain constant region gene Cc genes of human and nonhu- man hominoids, comparison, 13, 194

interleukin-6 signal t ransducing molecule gpl30 cDNA (rat liver), 14, 666

interleukin-8 receptor pseudogene (human), 14, 685 in te r leukin- l l gene (human), 13, 814 junction regions of primate haptoglobin gene cluster (chimpanzee),

14, 948 large repeat sequence element specific to murine chromosome 8, 12,

517 LINE1 repeat 5' ends (rabbit), 14, 320 locus-specific hypervariable (cac)n/(gtg) n loci (human), 13, 983 long-chain acyl-CoA dehydrogenase cDNA (human), 11,609; erra-

tum, 12,626 lysyl hydroxylase cDNA (human), 13, 62 a- 1,3-mannosyl-glycoprotein ~- 1,2-N- acetylglucosaminyltransfer-

ase gene (mouse), 12, 699 MCP and MCP-like exon/ in t ron areas in regulators of complement

activation gene cluster RCA (human), 12, 289 mcs94.1 gene at D10S94 in M E N 2 A region (human), 13 ,344 minisatellite locus D12S40, comparison between human and other

primates: alleles detectable only after PCR amplification, 12, 116

mitochondrial NADH:ubiquinone oxidoreductase 51-kDa subunit gene (human), 14, 1117

MstII and THE-LTR(O) interspersed repeats, al ignment (human), 13, 431

Mullerian inhibit ing substance gene (rat), 12, 665 murine factor VIII gene, comparison with human FSA gene: se-

quence conservation, 13, 862 murine neuroblastoma cDNA MMR1 clone, 14, 857 murine Small eye and human aniridia cDNAs, comparison, 13, 251 murine T-cell-specific granzyme A gene and flanking 5'- and 3'-

flanking regions, 13, 502 N-CAM gene 5' region (chicken), 14, 875 NF1 gene-related pseudogene, 13, 672 NF1 pseudogene on chromosome 15, comparison with NF1 gene

(human), 13, 1316 nucleic acids, analysis and comparison by hybridization to arrays of

oligonucleotides, 13, 1008 partial deletion of steroid sulfatase gene: 3 bp homology at deletion

breakpoints (human), 13, 892 p l l calpactin I light chain cDNA (human), 13, 866 p58 cn~-I protein kinase lp36 chromosomal gene (human), 13, 613 Pi-class glutathione t ransferase sequence at 12q13-q14: reverse-

t ranscribed pseudogene (human), 14, 470 platelet-activating factor receptor gene (human), 13, 832 platelet-derived growth factor A chain gene on 7p22: minisatellite

structure (human), 13, 257 polymorphic tetranucleotide (TAAA)n repeats on chromosome 21

(human), 14, 1071 prosaposin chromosomal gene (human), 13, 312


prothymosin a gene family members, al ignment (human), 13, 319 psittacine 190-bp tandem repeats, 14, 462 RCC1 gene involved in coupling between DNA replication and mi-

tosis, 11,459; erratum, 12, 181 region surrounding VNTR system B 1 at D21Sl12 (human), 14, 816 rod photoreceptor cGMP phosphodiester fi-subunit cDNA (hu-

man), 13, 698 satellite-like repetitive DNA sequences (zebrafish), 13, 1169 Shaw-re la ted potassium channel gene Kv3.3 (mouse), 12, 190 snRNP E protein cDNA (chicken, mouse), 14, 883 Sry gene on Y chromosome, differences between M u s musculus mu-

sculus and M. m. domesticus, 13,236 T-cell receptor

a/5 chain locus: 95 kb near 3' end (mouse), 13, 1198 Ca/C5 region: 95 kb DNA: alignment and consensus sequences

(mouse), 13, 1209 THE-LTR(O) and MstI I interspersed repeats, al ignment (human),

13, 431 thrombospondin II gene T H B S 2 (human), 12, 421 TNFR1 gene (human), 13, 219; erratum, 13, 1384

• t ranscobalamin I gene (human), 12, 459; erratum, 14, 208 t ransi t ion protein TNP2 (human), 14, 377 t ransp lan ta t ion antigen cDNA, comparison (bovine, human,

mouse), 14, 959 transposon-like element THE-43D involved in deletion-prone re-

gion of dystrophin gene, 13, 594 ubiquitin/52-residue ribosomal protein processed pseudogenes (hu-

man), 14, 520 versican cDNA clone VS1 (human), 14, 845 voltage-gated calcium channel gene (human brain), 14, 1092 WT1 gene (human), 12, 807 zinc finger

HZF-1, HZF-2, and HZF-3 clones (human), 14, 970 KRAB-domain-containing genes (human), 12, 581 related domains in loci mapped on human chromosomes, 13,999

ZNF75 motif on Xq26 (human), 13, 1231 ZP3 gene (human), 14, 1064

0

Obesity related mutat ion tubby, and Ins-2, localization to distinct regions of

murine chromosome 7, 14, 197 Oligonucleotide-ligation assay

based automatable screening of YAC libraries, 13, 935 Oligonucleotide repeats

(CAC)J(GTG)~, produced multilocus fingerprints, dissection into individual locus-specific hypervariable components (human), 13, 983

Oligonucleotides arrays, hybridization to, in analysis and comparison of nucleic acid

sequences, 13, 1008 degenerate, primed PCR: general amplification of target DNA, 13,

718 Oncomodulin

gene localization to 7p11-p13: absence of linkage to parvalbumin (human), 12, 567

Oocytes individual, PCR analysis for gene-centromere linkage mapping

(mouse), 13, 713 Ornithine aminotransferase, see Ornithine-oxo-acid t ransaminase Ornithine-oxo-acid t ransaminase

gene mutat ions in gyrate atrophy, identification (human), 14, 553 gene point mutations, detection with strand-separat ing conforma-

tional polymorphism analysis (human), 13, 389 Osteodystrophy

Albright hereditary, see Albright hereditary osteodystrophy Ovalbumin

gene mapping in si tu (chicken), 13, 1343

P

Pane th cells expression of defensin-related CRSIC gene (mouse), 14, 363

Paralysis hypokalemic periodic, and three candidate loci, linkage exclusion

(human), 14, 493 Paraneoplastic cerebellar degeneration

associated leucine zipper DNA-binding protein CDR62, gene mapping in s i tu to 16p12-p13.1 (human), 13, 1340

Parvalbumin gene localization to 22q12-q13.1: absence of linkage to oncomodulin

(human), 12, 567 PCR, see Polymerase chain reaction Pepsinogen A

encoding locus, YAC clone encompassing, mapping by FISH with Alu -PCR-genera t ed probes (human), 13, 726

Pepsinogen C encoding gene, polymorphisms within, PCR detection: construction

of linkage map around PGC from 6 p l l to 6p21.3 (human), 14, 398

Perforin PRF1, mapping to human 10q22: region syntenic with murine chro-

mosome 10, 13, 1300 Pericentromeric region

on long arms of chromosomes 13 and 21, unique sequence homology, 12, 158

Peripherin -RDS locus, in original 6p-linked pedigree in autosomal dominant

retinitis pigmentosa, identification of mutation, 14, 805 Phenylalanine hydroxylase

gene missense mutations, phenylketonuria-associated, identifica- t ion among Chinese, 13, 894

gene mutations, identification in Chinese phenylketonuria patients, 13, 230

Phenylketonuria associated missense mutations, identification among Chinese, 13,

894 three muta t ions causing, identification in Chinese patients: evi-

dence for recombination or recurrent mutat ion at phenylalanine hydroxylase locus, 13, 230

Phospholipase C locus PLC1 on chromosome 20, associated microsatellite, identifi-

cation, mapping, and linkage to MODY locus (human), 13,560 Photoreceptors

rod, cGMP phosphodiester fi-subunit gene mapping to murine chromosome 5 and human 4p16.3 close to

Hunt ington disease region, 12, 750 PDEB, homologous to murine rd gene, ass ignment to human

chromosome 4p16, 12, 601 retinal cDNA sequence and expression in brain (human), 13,698

Phototransduct ion associated genes in cattle, syntenic assignments, 14, 699

Physical map albino-deletion complex in mouse: localization of neonatal survival

locus alf/hsdr-1, 14, 275 chromosome 2, localization of t(2;13) breakpoint of alveolar rhab-

domyosarcoma (human), 13, 1150 chromosome 4

based on dinucleotide repeats (human), 14, 209 Hunt ington disease gene region (human), 13, 1040 4p16.3, inclusion of 18 sequence-tagged sites spanning 4p16.3 and

Hunt ington disease candidate region, 13, 75 chromosome 6p21.3 telomeric MHC region, relevance to primary

hemochromatosis gene (human), 14, 232 chromosome 7 alf/hsdr-1 region, derived by chromosome jumping

(mouse), 14, 288 chromosome 8 RFLP markers (human), 13, 1261


chromosome 9 9p interferon region, with combined genetic map (human), 14,

105 9q GT polymorphisms (human), 12, 229 9q34-qter carboxyl ester lipase gene and related gene (human),

13, 630 chromosome 10, D10S94 near MEN2A locus: CpG island cluster

(human), 13, 339 chromosome 11

168 cosmid DNA markers (human), 13, 129 l l q l 3

folate receptor gene region (human), 14, 423 14-Mb region harboring MEN1 locus and tumor amplicon re-

gion (human), 13, 16 region harboring malignant tumor-associated amplicon (hu-

man), 13, 21 chromosome 12q 1.3-Mb region spanning GLI and LRP loci (hu-

man), 14, 117 chromosome 16

cosmid contig, evaluation (human), 13, 1031 high-resolution cytogenetic-based (human), 13, 1178 16p3.3, PKD1 gene fine genetic localization with polymorphic

markers (human), 13, 152 chromosome 17

pericentromeric region: epidermal antigen gene mapping near NF1 gene (human), 14, 369

proximal 17p, somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and YACs for construction, 13, 551

17q11.2, neurofibromatosis type 1 gene region, 13, 672 chromosome 18, construction with somatic cell hybrids containing

chromosome 18 deletions (human), 13, 1 chromosome 19q

microsatellite repeat markers near RYR1 locus on 19q13.1: apparent exclusion of malignant hypertherma susceptibility locus, 14, 749

myotonic dystrophy gene region proximal segment, 13, 518 chromosome 20 markers, construction with somatic cell hybrid cell

lines and FISH (human), 14, 532 CREB gene (mouse), 13, 974 DNA clones on banded chromosomes, construction with fluores-

cence in situ hybridization (mouse), 12, 106 dystrophin gene distal portion, exons (human), 13, 942 fine mapping of spinal muscular atrophy locus to region flanked by

MAPIB and D5S6 (human), 13, 991 gene mapping to specific chromosomes in Dictyostelium discoideum,

13, 49 kallikrein locus (human), 14, 6 long-range

carcinoembryonic antigen gene family cluster on chromosome 19q (human), 12, 761

LY-6 complex, construction with field-inversion and two-dimensional gel electrophoresis (mouse), 12, 89

monoamine oxidase gene region (human), 14, 75 MHC class I region (human), 14, 1003 950-kb region surrounding D10S102 locus tightly linked to MEN2A

gene (human), 12, 394 pregnancy-specific glycoprotein gene, 12, 780 T-cell receptor a/5 chain locus 3' end: sequence analysis of 95-kb

region (mouse), 13, 1198 X chromosome

with cosmid clones localized by FISH technique (human), 14, 542 distal Xp, isolated DNA markers (human) 13, 167 in female Menkes syndrome~patient, refinement: fine mapping of

breakpoint, 14, 557 murine, extension in region homologous to human Xq28 and

identification of exception to conserved linkage, 13, 1289 physical linkage of A-raf-1, properdin, synapsin I, and TIMP

genes (human, mouse), 12, 632

X-Y pseudoautosomal region, localization of GM-CSF receptor a chain gene CSF2RA (human), 14, 455

YACs: method involving PCR amplification, 13, 1303 Pigmentation

dominant white color gene/, close linkage to ALB and PDGFRA on chromosome 8 (pig), 14, 965

Plasma carboxypeptidase B, see Lysine carboxypeptidase Plasma proteinase inhibitors

inter-a-inhibitor and pre - a-inhibitor family, encoding genes, homologous chromosomal locations in human and mouse, 14, 83

a2-Plasmin inhibitor gene assignment to 17pter-p12 by PCR analysis of somatic cell hy-

brids (human), 13, 213 Platelet-activating factor receptors

encoding gene, analysis: absence of introns and mapping to chromosome 1 (human), 13, 832

Platelet-derived growth factor A chain, gene assignment to 7p22, confirmation and description of

unusual minisatellite (human), 13, 257 Polycystic kidney disease

associated PKD1 gene region, human-mouse homologies, 13, 35 autosomal dominant, gene localization

with physically mapped markers (human), 13, 152 to 750-kb CpG-rich region in 16p13.3 (human), 13, 144

Polymerase chain reaction allele-specific, application to direct determination of ABO blood

group genotypes (human), 12, 670 Alu element-mediated

based differential hybridization on chromosome 22-specific library, in rapid isolation of cosmids from defined subregions (human), 13, 395

in characterization of chromosome 6-specific hybrid mapping panel and cloning of

chromosome 6-specific markers (human), 12, 549 hybrids with multiple human fragments and generation of

Xp21.3-p22.2 markers, 12, 368 and flow sorting, in fluorescent in situ identification of human

marker chromosomes, 13,355 generated probes

labeled via linear amplification, in identification of region-specific YACs, 14, 931

in YAC mapping by FISH, 13, 726 mediated DNA amplification, in fingerprinting human chromo-

somes, 14, 728 single yeast colony, in chromosomal mapping of YAC clones by

FISH technique (human), 14, 181 YAC clones amplified by, fluorescence in situ hybridization, 13,

826 amplification of

chromosome-specific DNA isolated from flow cytometry-sorted chromosomes (human), 12, 307

mini- and microsatellite within 1.5 kb at muscle glycogen phosphorylase locus (human), 13, 7

Xq21.33-q24 region polymorphic sites: DXS17, DXS87, and DXS287 and a-galactosidase A (human), 13, 70

amplified DNA identification of minisatellite alleles absent from Southern blot

profiles (human), 12, 116 single base substitutions, detection as heteroduplex polymor-

phisms, 12, 301 in analysis of somatic cell hybrids

in assignment of human a2-plasmin inhibitor gene to 17pter-pl2, 13, 213

with X;autosome translocations, in assignment of human erythroid ~i-aminolevulinate synthase to Xp11.21 distal subregion, 13, 211

based amplification and analysis, yeast artificial chromosomes, 13, 1303


from somatic hybrid cell panel and chromosome-sorted DNA libraries, in mapping acetylcholinesterase gene to 7q22 (human), 13, 1192

based variant detection systems for D10S94 polymorphisms, development (human), 13, 233

degenerate oligonucleotide-primed: general amplification of target DNA, 13, 718

derived fluorescent products from hybrid cell panels, in chromosomal assignment of brain-expressed sequence tags (human), 14, 808

in detection of exonic polymorphisms in type VII collagen gene at 3p21.1 (hu-

man), 14, 827 polymorphism within pepsinogen C gene (human), 14, 398

in discrimination of a-satellite DNA sequences from chromosomes 21 and 13 (human), 14, 515

Ig kappa chain Km allotyping with, demonstration of allelic association of Km with kappa variable segment, 13, 104

individual oocytes, for gene-centromere linkage mapping (mouse), 13,713

in mapping bile acid UDP-glucuronosyltransferase gene to chromosome 4 (human), 13, 908

with MOPAC technique, in cross-species cloning of sulfatase gene family (human, mouse), 12, 755

multiplex in amplification of three microsatellites in CFTR gene (human),

13, 1362 in genetic mapping of four X chromosome dinucleotide repeat loci

(human), 13, 375 with oligonucleotide-ligation assay, in automatable screening of

YAC libraries, 13, 935 primers, generation: sequence tagged site markers specific for chro-

mosome 21 (human), 14, 185 in radiation hybrid analysis for isolation of DNA markers in vicin-

ity of incontinentia pigment 1 locus, 14, 649 repeat element-mediated: cloning and mapping of chromosome 10

DNA markers (human), 13, 409 in RFLP analysis, in genotyping of chromosome 3 short arm in

small biopsies from lung cancer patients, 12, 221 -RFLP mapping technique, in assignment of angiogenin gene to

chromosome 14 (mouse), 12,177

in sequence-independent amplification of microdissected chromosomal material, 13, 1322

shotgun, in construction of clone libraries specific to NotI fragment of flow-sorted human chromosome 22, 13, 109

-single-strand conformation polymorphism analysis, in detection of anonymous Alu repeats on chromosome 11 (human), 12,139

vectorette, in determination of exon structure of distal portion of dystrophin gene (human), 13, 942

Polymorphisms, see specific types and DNA polymorphisms

Polyubiquitin encoding gene UBC, assignment to 12q24.3 (human), 12, 639

Population genetics genetic variation at five trimeric and tetrameric tandem repeat loci

in four U.S. ethnic groups, 12, 241

Potassium channels cardiac, encoding gene KCNA1, cloning, characterization, and geno-

mic localization (human), 12, 729 Shaw-related gene Kv3.3, genomic structure, sequencing, cellular

distribution, and chromosomal mapping (human, mouse), 12, 190

Prader-Willi syndrome and Angelman syndrome, distinguishing by DNA methylation im-

print determined by sex of parent, 13, 917

Pre-a-inhibitor and inter-a-inhibitor, family, homologous gene chromosomal loca-

tions in human and mouse, 14, 83

Procollagen proa2(I) collagen, murine, cDNA-derived amino acid sequence, com-

parison with human proa2(I) collagen, 13, 1345 Procollagen-lysine,2 -oxoglutarate 5-dioxygenase

cloning: complete cDNA-derived amino acid sequence and PLOD gene assignment to lp36.3-~p36.2 (human), 13, 62

Progesterone receptors gene mapping in situ (chicken), 13, 1343

Program descriptions Genome Efforts in Japan as of 1991, 12,618

Prolactin encoding gene, close linkage to BoLA-DRB3 gene: genetic distance

estimate by single sperm typing (bovine), 13, 44 Promoters

alternative, for human factor VIII gene: evidence for third transcript, 14, 585

CREB gene, analysis (mouse), 13, 974 N-CAM gene, conserved regulatory elements (chicken), 14, 875

Properdin and A-tar-l, synapsin I, and TIMP, encoding genes, physical link-

age on X chromosome (human, mouse), 12, 632 Propionyl-CoA carboxylase

a-chain gene PCCA, assignment to 13q32 by in situ hybridization (human), 14, 550

Prosaposin chromosomal gene, structure and evolution (human), 13, 312

Protamines gene cluster, assignment of transition protein 2 gene (human), 14,

377 Protein-L-isoaspartate(D-aspartate) O-methyltransferase

gene mapping to human 6q22.3-6q24 and syntenic region of murine chromosome 10, 14, 852

Protein kinase cAMP-dependent, regulatory subunits Rift and RII~, encoding

genes, mapping on chromosome 7 (human), 14, 63 p58 elk-l, chromosomal gene, structure and expression (human), 13,

613 Protein kinase C

80-kDa substrate MARCKS protein 80K-L, molecular cloning and chromosomal mapping (human),

14, 175 gene mapping (human, mouse), 14, 168

Protein-lysine 6-oxidase gene mapping to murine chromosome 18, 14, 822

Proteins bone morphogenetic, subfamily: chromosomal localization of

BMP5, BMP6, and BMP7 genes (human), 14, 759 cAMP response element-binding, encoding gene Creb-1

mapping to chromosome 1 (mouse), 14, 790 structure, promoter analysis, and chromosomal localization

(mouse), 13, 974 C4-binding protein-like, region in regulators of complement activa-

tion gene cluster RCA, analysis (human), 12, 289 CCAAT/enhancer binding

C/EBPa, gene mapping to 19q13.1: mapping of related CEBPB to 20q13.1 (human), 14, 12

encoding gene CEBP, chromosomal localization (human, rat), 13, 293

cellular retinaldehyde-binding, encoding gene RLBP1, assignment to human chromosome 15q26 and murine chromosome 7, 12, 58

Charcot-Leyden crystal, eosinophil, gene localization to chromosome 19 (human), 13, 240

cysteine-rich, encoding gene, analysis, mapping to lq24-1q32, and identification of associated MspI polymorphism (human), 14, 391

DNA-binding, RrB, tissue-specific, gene mapping to 11q24-q25 (human), 14, 270


D site binding, encoding gene DBP, chromosomal localization (human, rat), 13, 293

eosinophil cationic, encoding gene RNS3, localization to chromosome 14 (human), 13, 240

G, see G proteins glycogen debrancher, see Glycogen debrancher protein heat-shock

90a, gene family mapping to chromosomes 1, 4, 11, and 14 (human), 12, 214

encoding genes HSPA6 and HSPA7, expression and localization to chromosome lq (human), 12, 74

hepatocyte growth factor-like, gene assignment to chromosome 9 (mouse), 13, 1368

heterogeneous nuclear ribonucleoprotein core protein A1, gene assignment to 12q13.1 by cDNA competitive in situ hybridization (human), 12, 171

high-mobility-group, see High-mobility-group proteins human immunodeficiency virus type 1 enhancer binding, HIV-EP2,

gene mapping to 6q23-q24 (human), 12, 167 human spasmolytic, SML1/hSP, gene mapping to 21q22.3 physi-

cally linked to homologous breast cancer marker gene BCEI/ pS2 (human), 13, 1328

insulin-like growth factor-binding, encoding genes IGBP1 and IGBP3, contiguous localization on chromosome 7 (human), 12, 497

interferon- and virus-induced, encoding genes IFI-56K and IFI- 54K, mapping to 10q23-q24 (human), 13, 458

leucine zipper DNA-binding, CDR62, encoding gene, in situ mapping to 16p12-p13.1 (human), 13, 1340

localization sites in eukaryotic cells, prediction of, knowledge base for, 14, 897

low-density lipoprotein receptor-related, encoding gene, and gli oncogene, 12q 1.3-Mb region spanning, physical map (human), 14, 117

MARCKS, encoding gene mapping (human, mouse), 14, 168 molecular cloning and chromosomal mapping: major protein ki-

nase C substrate 80K-L (human), 14, 175 membrane cofactor-like, region in regulators of complement activa-

tion gene cluster RCA, analysis (human), 12, 289 microtubule-associated, MAPIB, and D5S6, fine-mapping of spinal

muscular atrophy locus in intervening 5q13 region (human), 13, 991

nuclear, see Nucleoproteins olfactory marker, encoding gene, close linkage to murine deafness

mutation shaker-i, 13, 189 p105 and p49/100, of NF-KB complex, gene mapping to regions as-

sociated with translocations in leukemia (human), 13, 287 prolactin-related, and placental lactogen, somatic cell mapping,

polymorphism, and linkage analysis (bovine), 14, 137 pS2, gene physical linkage to homologous human spasmolytic pro-

tein gene mapped to 21q22.3 (human), 13, 1328 pulmonary surfactant, encoding genes, chromosomal localization

(mouse), 12, 388 ribosomal

52-residue, -ubiquitin fusion gene subfamily, identification as primarily processed pseudogenes (human), 14, 520

intron-containing genes, chromosomal mapping: no linkage detection (human), 13, 201

$4, encoding gene Rps4 inactivation on murine X chromosome, 11, 1097; erratum, 13,

915 mapping near inactivation center on X chromosome (mouse),

12, 363 tyrosinase-related, encoding T Y R P (brown) locus, assigment to

9p23 by nonradioactive in situ hybridization (human), 13, 227 zinc finger

associated C2-H2 sequences, clustering within telomeric and fragile site regions of human chromosomes, 13, 999

encoding gene ZNF117, mapping to 7q11.2 (human), 14, 780 encoding locus GLI locus, and L R P locus, 12q 1.3-Mb region

spanning, physical map (human), 14, 117 expressed gene cluster in chromosome 10 pericentromeric region

(human), 13, 845 genes with, mapping to short and long arms of acrocentric chro-

mosome 22, cloning (human), 13, 641 KRAB-domain-containing genes encoding, identification and

characterization (human), 12, 581 linked gene clusters on l lq, isolation and expression (human),

14, 970 Nil-2-a, encoding gene TCF8, mapping to 10pll.2 (human), 14,

194 69 potential genes for, high-resolution localization: occurrence of

clustering (human), 12, 254 testis-expressed gene ZNF76, and human homolog of t-complex

gene tcp-ll , mapping to 6p21.3 centromeric to MHC, 14, 673 Y-linked, homologous sequences in marsupial, in situ hybridiza-

tion data for, statistical analysis with z ~ test (human), 12,675 ZNF35, encoding gene HF.10 on 3p21-p22, structural and func-

tional organization (human), 12, 720 ZNF75, isolation and mapping to chromosome Xq26 (human), 13,

1231 zona pellucida, ZP3, sperm receptor-binding, cloning and character-

ization: second polymorphic allele with different frequencies in Caucasian and Japanese populations, 14, 1064

Protein sequences Alu-derived and other, potentially misleading in similarity search

for coding exons, identification, 12, 838 Protein-tyrosine kinase

receptor-type, encoding gene FLT4, chromosomal localization (human, mouse), 13, 475

Protein-tyrosine-phosphatase hematopoietic cell, encoding gene Hcph, assignment to murine

chromosome 6, 14, 793 receptor-linked, gene assignment to 20p 12-pter by in situ hybridiza-

tion (human), 13, 906 SH2-containing, chromosomal localization (human), 13,869 T-cell, assignment to conserved syntenic groups on chromosome 18

(human, mouse), 12, 151

Prothymosin a gene family members, cloning and sequencing: processed pseudo-

genes lacking deleterious lesions (human), 13, 319

Protozoa Plasmodium falciparum, YACs from, characterization: construction

of stable library and cloning of telomeric DNA fragments, 14, 332

Pseudoautosomal region sex chromosomes, highly polymorphic marker MAF45 not linked to

FecX I Inverdale gene (sheep), 13, 849 X-Y, localization of GM-CSF receptor a chain gene CSF2RA (hu-

man), 14, 455

Pseudogenes adenylate kinase 3, AK3, mapping to intron o f N F 1 gene (human),

13, 537 aldehyde dehydrogenase, nucleotide sequence analysis and assign-

ment to chromosome 3 (human), 13, 465 cyclin D, corresponding to CCND2 and CCND3, detection (human),

13, 575 cyclin D2 and D3, and cyclin D authentic genes, genomic organiza-

tion, chromosomal localization, and independent expression (human), 13, 565

D5 dopamine receptor, chromosomal localization (human), 13, 968 in 4.5 S RNA, sequence organization (mouse), 12, 555 a-L-fucosidase, nucleotide sequence (human), 12, 276 high-mobility-group protein gene Hmgi-related, chromosomal local-

ization (murine spp.), 12, 503 in human genome, association with CpG islands, 13, 1095


interleukin-8 receptor, and and genes encoding IL8 receptor types 1 and 2, assignment to chromosome 2q35 (human), 14, 685

NFl-related identification on chromosome 15 (human), 13, 1316 and NF1 gene, sequence comparison, 13, 672

processed identification of human ubiquitin/52-residue ribosomal protein

fusion gene subfamily as primarily composed of, 14, 520 related to functional gene encoding GM2 activator protein, map-

ping to chromosome 3 (human), 14, 796 in prothymosin a gene family, characterization: processed pseudo-

genes lacking deleterious lesions (human), 13, 319 and related carboxyl ester lipase gene, genomic organization, se-

quence analysis, and chromosomal localization (human), 13, 630

and related creatine kinase B gene locus, genetic variabili ty in inbred strains of mice, 12, 340

reverse-transcribed, identification of human Pi-class glutathione transferase sequence at 12q13-q14 as, 14, 470

Radiation hybrid maping distal 5q growth factor, growth factor receptor, hormone receptor,

and neurotransmit ter receptor genes (human), 13, 803 DNA markers in chromosome 10 pericentromeric region (human),

13, 601 loci on chromosome 5 long arm, 11,701; erratum, 14, 832 minimum breaks method, statistical properties and application, 13,

95 in ordering human chromosome 3p markers, 13, 705 panel surrounding agouti locus on chromosome 2, construction,

analysis, and application (mouse), 13, 731 proximal short arm of X chromosome spanning incontinentia pig-

menti 1 translocation breakpoints (human), 14, 657 spanning Hunt ington disease gene region of chromosome 4 (hu-

man), 13, 1040 Recombinant strains

inbred, in localization of interleukin-5 receptor gene to chromosome 6 distal half (mouse), 12, 855

Recombination in construction of ordered sets of overlapping clones, MEPS param-

eters and graph analysis for, 13, 1065 genetic, between D3S2 and D3S3 on chromosome 3p, measurement

with sperm typing (human), 12, 683 hot spot associated with Eb gene, meiotic crossing over within, role

of nucleotide sequence identity (mouse), 13, 1334 or recurrent mutat ion, at phenylalanine hydroxylase locus, evi-

dence: three phenylketonuria mutat ions in Chinese patients, 13, 230

V(D)J site-specific, associated gene RAG1, assignment to 14q21.3- q22.2 region (human), 13 ,488

Recombination frequency between bovine prolactin and BoLA-DRB3 genes, estimation by

single sperm typing, 13, 44 Regulatory elements

conserved, in promoter region of N-CAM gene (chicken), 14, 875 Renal disease

severe, association with homozygosity for Asn187 gelsolin mutat ion in Finnish-type familial amyloidosis, 13 ,902

Repeat structure higher order, human chromosome 8-specific alpha satellite DNA,

13 ,585 Repetitive elements

Alu, see Alu repeats (CA)n, polymorphic, as genetic marker in mapping human gluco-

kinase gene to chromosome 7p, 12 ,319 L1, and Alu, mediated PCR: cloning and mapping of chromosome

10 DNA markers (human), 13 ,409

THE-LTR(O) and MstII interspersed repeats, consensus sequences: subfamilies of single highly variable repeat family (human), 13, 431

Repetitive sequences amplified long genomic sequence, identification in centromeric re-

gions of chromosomes of wild and laboratory mice, 13, 1186 (GT)n, highly polymorphic, within monoamine oxidase B gene in-

t ron II, description (human), 12 ,176 pTR5 and LF1, moderately repetitive, distr ibution in Xq24-q28

and application to YAC contig assembly (human), 12, 264 Y-chromosomal family, sequences from, analysis (bovine), 13, 1267

Restriction enzymes NotI, generated fragment of flow-sorted human chromosome 22,

specific clone libraries, construction with shotgun PCR, 13, 109

Restriction fragment length polymorphisms additional, detection at D10S94: development of PCR-based vari-

an t detection systems (human), 13, 233 analysis, applicability of murine genomic DNA sequences homolo-

gous to sea urchin TU elements, 12 ,357 chromosome 8 markers, isolation and mapping (human), 13, 1261 conventional systems, identification with DNA clones on 11p15

(human), 13, 1296 detected by malic enzyme probe, close linkage to loci encoding other

metabolic enzymes (mouse), 12, 405 microsatellite, D5S204, in linkage analysis of spinal muscular atro-

phy (human), 12, 335 PCR-based analysis, in genotyping of chromosome 3 short arm in

small biopsies from lung cancer patients, 12, 221 - P C R mapping technique, in ass ignment of angiogenin gene to

chromosome 14 (mouse), 12, 177 systems

detected by multiple DNA markers on human chromosome 10, 12, 401

in D10S102 locus tightly linked to MEN2A gene, isolation (human), 12 ,394

Restriction map chromosome 4p telomere YAC clone (human), 14, 350 ERCC6 nucleotide excision repair locus: assignment to 10ql l -q21

(human), 12 ,745 genomic DNA regions containing HSP70 genes (bovine), 14, 863 Ig heavy chain constant region genes (gibbon, macaque, orangutan),

13, 194 long-range

construction for a5(IV) collagen chain gene at Xq22-q23 (human), 12, 130

myotonic dystrophy region of chromosome 19 (human), 13, 243 PKD1 region: gene localization to 750-kb CpG-rich region (hu-

man), 13, 144 myc-like sequence MYCLK1 (human), 13 ,449 overlapping cosmids in 19q myotonic dystrophy area, 13 ,509 predicted, for prosaposin chromosomal gene (human), 13, 312 SfiI, YAC contig containing complete Duchenne muscular dys-

trophy gene (human), 12 ,465 Yac clones containing Ig superfamily genes: molecular linkage of

CTLA4 and CD28 genes (human), 13, 856 Restriction trapper

in construction method for NotI l inking and boundary libraries, 14, 733

Ret ina North Carolina macular dystrophy, locus assignment to chromo-

some 6 (human), 13, 681 Retinitis pigmentosa

autosomal dominant associated muta t ion at per ipher in /RDS locus in original 6p-

linked pedigree (human), 14, 805 gene mapping to chromosome 6p, 11,870; erratum, 13, 1384 nonrhodopsin, families with, exclusion of chromosome 6 and 8

locations, 14, 191


autosomal recessive, nonallelic genetic heterogeneity in, 14, 811 Retinoid receptors

nuclear, RXRa, -fl, and -% encoding Rxr loci, mapping (mouse), 14, 611

Retroviruses human endogenous LTRs, cellular t ranscripts promoted by, detec-

tion: CDC4L gene with homology to yeast CDC4, 13, 1237 Retrovirus receptors

Rec-l-encoded cationic amino acid-transporting, murine, mapping of homologous human gene to 13q12-q14, 12, 430

RFLP, see Restriction fragment length polymorphisms Ribonuclease 2

eosinophil, encoding gene RNS2, localization to chromosome 14 (human), 13, 240

Ribonuclease 3 eosinophil, encoding gene RNS3, localization to chromosome 14

(human), 13, 240 Ribonucleoproteins

heterogeneous nuclear, see Heterogeneous nuclear ribonucleoproteins

small nuclear, E protein gene, conservation of coding and transcrip- t ional control sequences (chicken, mouse), 14, 883

RNA cellular transcripts promoted by human endogenous LTRs, detec-

tion: CDC4L gene with homology to yeast CDC4, 13, 1237 4.5 S, var ian t genes and pseudogenes, sequence organization

(mouse), 12, 555 messenger

ant i thrombin III, exon skipping demonstrated by ectopic t ranscript analysis: de novo splice site mutat ion (human), 13, 1359

Apoa-1/Apoc-3-encoded, tissue distribution (mouse), 14, 1081 ~3-casein, detection of exon skipping (human), 12, 13 clones mapping to 4p16.3 Hunt ington disease segment, identifi-

cation (human), 13, 1108 cyclin A and cyclin Bl-related, expression pat tern (mouse), 13,

415 cyclin B1, expression and genetic mapping of related genomic

sequences (mouse), 13, 1018 dystrophin, processing error, detection in golden retriever muscu-

lar dystrophy homolog of Duchenne MD, 13, 115 factor VIII gene: evidence for third t ranscript (human), 14, 585 a-galactosidase A, precursor, invar iant exon skipping: g+~ to t

subst i tu t ion in 5'-splice site causing Fabry disease (human), 12, 643

HOX4E gene, tissue expression pat tern: strong expression in adult urogenital t ract (human), 13, 425

p58 elk'1 prote in kinase chromosomal gene, expression analysis (human), 13, 613

t ransi t ion protein 2, detection at low levels (human testis), 14, 377

tropoelastin, precursor, alternative splicing sites, identification (rat), 12, 651

murine tissues, in analysis of expression of cystic fibrosis t ransmembrane conductance regulator gene, 13, 381

sequence analysis and comparison by hybridization to arrays of oligonucleotides, 13, 1008

small nuclear, protein sequence database entries with similarity to, screening for, 12 ,838

transfer, genes on chromosome 14, identification of cluster of biallelic polymorphic sequence-tagged sites (human), 12, 377

Ryanodine receptors encoding gene

coding sequences in mal ignant hyperthermia patients, polymorphisms and deduced amino acid substi tutions in, 13, 1247

on 19q13.1, physical mapping of microsatellite repeats in vicinity: apparen t exclusion of mal ignant hyper therma susceptibility locus, 14, 749

probable causal mutat ions leading to human and porcine malig- nan t hyperthermia, refinement of diagnostic assays for, 13,835

S Sarcolemma

cardiac, Na+-Ca 2+ exchanger, gene mapping to 2p21-p23 (human), 12, 616

Scatter factor -hepatocyte growth factor, encoding gene

chromosomal localization (human, rat), 13, 293 regional mapping to 7q21.1 (human), 13, 912

Schizophrenia and other multifactorial diseases, genetic predisposition, delinea-

t ion by VAPSE-based association studies, review, 12, 1 Sclerosis

amyotrophic lateral, gene M n d in murine model, mapping (mouse), 13, 797

Screening automatable, YAC libraries, oligonucleotide-ligation assay-based

strategy, 13 ,935 yeast and bacterial ordered libraries, automated gridding for, devel-

opment and application, 12, 534 Sequence-tagged sites

biallelic polymorphic, clusters generating highly informative and automatable markers for genetic linkage mapping, identification, 12, 377

chromosome 21-specific markers, generation (human), 14, 185, 498 chromosome 22-specific, panel (human), 14, 1098 in construction of 2.6-Mb YAC contig spanning human dystrophin

gene, 12, 474 from end fragments of YAC inserts, walking with, in mapping hu-

man chromosomes, 14, 241 proximal 17p, development and use in identification of YACs and

simple repeat polymorphisms, 13, 551 random strategy with, in construction of ¥AC contigs spanning de-

fined chromosomal regions (human), 14, 256 spanning 4p16.3 and Hunt ington disease candidate region, genera-

tion, 13, 75 Serine-pyruvate aminotransferase

encoding gene, single copy, localization on 9q34-q36 (rat), 13 ,686 Sex chromosomes

pseudoautosomal region, highly polymorphic marker MAF45 not linked to FecX ~ Inverdale gene (sheep), 13, 849

Sex determination associated Sry gene on Y chromosome, nuceotide sequence differ-

ences (Mus rnusculus musculus, M. m. domesticus), 13, 236 Sex reversal

XY, associated nonsense mutat ion in SR Y (human), 13, 838 Sexual development

associated Mullerian inhibit ing substance gene, isolation (rat), 12, 665

SH2 domains tyrosine phosphatase gene with, chromosomal localization (hu-

man), 13, 869 Short sequence repeats

juxtaposed, near exon 3 of insulin receptor locus among Mexican Americans, and haplotypes for, determination, 12, 842

Signal t ransduction interleukin-6, associated t ranscducer molecule gp130, molecular

cloning and characterization (rat liver), 14, 666 Single-strand conformation polymorphism analysis

-PCR, in detection of anonymous Alu repeats on chromosome 11 (human), 12, 139

snRNP, see Ribonucleoproteins, small nuclear Sodium-calcium exchanger

cardiac sarcolemmal, gene mapping to 2p21-p23 (human), 12, 616 Sodium channels

adult skeletal muscle locus at 17q23-q25, exclusion of linkage with hypokalemic peri-

odic paralysis (human), 14, 493 a-subuni t gene, as gene candidate for malignant hyperthermia

susceptibility (human), 14, 829


Solid-phase minisequencing in detection of AsplsT--~Asn (G654-~A) gelsolin mutation in all indi-

viduals with Finnish type familial amyloidosis, 13, 237 in quantitation of mutant allele frequency in aspartylglucosamin-

uria in Finland, 12, 590 Somatic cell mapping

prolactin-related proteins and placental lactogen (bovine), 14, 137 Sperm receptors

ZP3 ligand, cloning and characterization: second polymorphic allele with different frequencies in Caucasian and Japanese populations, 14, 1064

Sperm typing in genetic mapping of prolactin and BoLA-DRB3 genes of cattle,

13, 44 in measurement of recombination fraction between D3S2 and D3S3

on chromosome 3p (human), 12, 683 Spermatogenesis

associated transition protein 2 gene, nucleotide sequence, assignment to protamine gene cluster, and evidence for low expression (human), 14, 377

Spermatozoa frequency of chromosome 2 aneuploidy, analysis: application of

chromosome-specific a-satellite DNA (human), 13, 122 Sphingomyelin phosphodiesterase

encoding gene, structural organization and nucleotide sequence (human), 12, 197

Spinal muscular atrophy chronic childhood-onset, linkage analysis: confirmation of close

linkage to D5S39 in French Canadian families, 14, 188 linkage analysis (human), 12,335 locus on chromosome 5q13, fine mapping to region flanked by

MAP1B and D5S6 (human), 13, 991 Splice site junctions

CFTR, analysis by denaturing gradient gel electrophoresis, 13, 770 Splicing

alternative, tropoelastin gene elements associated with, analysis (rat), 12, 651

Statistical analysis in situ hybridization data: derivation and application of Zmax test,

12, 675 Statistical techniques

in DNA sequencing: method for statistical reconstruction of large sequence from set of sequenced fragments, 14, 89

Stem cells hematopoietic, associated antigen CD34, gene structure (human),

12, 788 Steroid sulfatase

encoding gene partial deletion, sequence analysis: 3 bp homology at deletion

breakpoints (human), 13, 892 surrounding YAC contig, isolation and characterization (human),

12, 7 Strain differences

creatine kinase B gene locus and related pseudogenes: genetic variability in inbred strains (mouse), 12, 340

Stromelysin 3 gene assignment to 22q11.2 (human), 13, 881

Structural map Sxr region of Y chromosome (mouse), 12, 26

STS, see Sequence tagged sites Sulfatase

gene family, cross-species PCR cloning with MOPAC technique (human, mouse), 12, 755

Superoxide dismutase genes EC-SOD and SODIL, somatic cell mapping (bovine), 12,610 manganese-containing, gene sublocalization to 6q25 by FISH and

somatic cell hybrid mapping (human), 14, 823

Supraehromosomal subfamilies dimeric, identification of alpha satellite DNAs on chromosomes 10

and 12 as members (human), 13, 1125 Survival

neonatal, associated locus alf/hsdr-1 localization by physical mapping of albino-deletion complex

(mouse), 14, 275 minimal region within albino-deletion complex for, definition

with chromosome jumping from flanking markers (mouse), 14, 288

Symmetry left-right, iv gene determining, duplication/deficiency mapping

(mouse), 14, 643 Synapsin I

A-ra[-1, properdin, and TIMP, encoding genes, physical linkage on X chromosome (human, mouse), 12, 632

Syntenic groups bovine, mapping of superoxide dismutase genes EC-SOD and

SOD1L, 12, 610 Synteny

conserved regions, between human 11q13 loci and regions on murine chromosomes 7 and 19, 12, 738

between loci for FACIT-like collagen locus and al(IX) collagen on human 6q12-q14, 13,884

mapping in bovine: homologs to human chromosome 4 genes, 14, 131 human chromosome 5 genes, 14, 126

related assignments for visual transduction genes in cattle, 14, 699

T

Tandem repeats abundant 190-bp DNA fragment in parrots, structure and evolu-

tion, 14, 462 five loci, comparison between human and chimpanzee, 14, 692 short

in construction of chromosome 8 linkage map: effect of genotyping errors (human), 14, 144

trimeric and tetrameric, in four U.S. ethnic groups, genetic variation, 12, 241

simple, (CAC)s/(GTG)5, produced multilocus fingerprints, dissection into individual locus-specific hypervariable components (human), 13, 983

synthetic, in detection of polymorphic loci in complex genomes, 12, 454

telomeric, genetic mapping (tomato), 14, 444 T-cell receptors

a chain, encoding locus on 14q, YAC-based identification of highly polymorphic CA repeat (human), 13, 820

and f~ gene complexes, constant regions, identification of clusters of biallelic polymorphic sequence-tagged sites (human), 12, 377

a/5 chain locus, 95 kb near 3' end, nucleotide sequence analysis (mouse), 13, 1198

f~ chain, 7q35 locus, exclusion of linkage with hypokalemic periodic paralysis (human), 14, 493

encoding gene, Ca/C5 region, 95 kb spanning, organization, structure, and function (mouse), 13, 1209

T cells activation molecule CD28, and CTLA4 molecule, encoding genes,

molecular linkage in YACs (human), 13, 856 protein-tyrosine-phosphatase, assignment to conserved syntenic

groups on chromosome 18 (human, mouse), 12, 151 specific serine proteinase granzyme A, genomic organization

(mouse), 13,502 t-Complex

associated murine gene tcp-ll , human homolog, close linkage to testis-expressed zinc finger protein gene ZNF76 mapping to 6p21.3 centromeric to MHC, 14, 673


human homolog genes, genetic mapping: TCP10 mapping to 6q27 15 cM distal to TCP1 and PLG (mouse), 12, 826

murine, TCTE3 gene in, assignment of human homolog to 6q27, 13, 1337

Telomeres associated 60 kb of chromosome 4p, homology with telomeric re-

gions on 13p, 15p, 21p, and 22p (human), 14, 350 associated tandemly repeated DNA sequences, genetic mapping (to-

mato), 14, 444 human chromosomes, clustering of C2-H2 zinc finger motif se-

quences within, 13, 999 inverted repeat arrays at 2q13, mapping distal to FRA2B (human),

12, 833 normal human karyotypes, subregions, multiple variants in, 14,

1019 Tenascin

encoding gene, repeats, detection of highly homologous cluster of fibronectin type III repeats in MHC class III region (human), 12, 485

Testis expressed zinc finger gene ZNF76 in 6p21.3 centromeric to MHC,

close linkage to human homolog of t-complex gene tcp- l l , 14, 673

germ cell-specific t-complex gene TCTE3, routine, assignment of human homolog to 6q27, 13, 1337

transition protein 2 mRNA detection at low levels (human), 14,377 fl-Thalassemia

gene IVS-13' end G-C mutation, detection in AG invariant dinucleotide of acceptor splice site, 13, 234

Thrombosis recurrent venous, associated de novo splice site mutation in an-

tithrombin III gene: exon skipping (human), 13, 1359 Thrombospondin II

gene THBS2, cDNA sequence, chromosomal location, and expression (human), 12, 421

TIMP, see Tissue inhibitor of metalloproteinases Tissue inhibitor of metalloproteinase

and A-ra[-1, properdin, and synapsin I, encoding genes, physical linkage on X chromosome (human, mouse), 12, 632

type 2, gene localization to chromosome 11 by linkage analysis (mouse), 14, 828 on chromosome 17q25 (human), 14, 782

Tissues distribution of Shaw-related potassium channel gene Kv3.3

(mouse), 12, 190 expression of lp36 p58 elk-1 protein kinase gene expression (human),

13, 613 specific expression of chromosome 19 sequences, cDNA surveying

(human), 14, 263 Transactivators

identification as role of HF.10 zinc finger gene (human), 12, 720 Transcobalamin I

chromosomal gene, genomic structure and mapping: comparison to gastric intrinsic factor (human), 12, 459; erratum, 14, 208

Transcription choline acetyltransferase gene, potential control sequences (hu-

man), 12, 412

control sequences within snRNP E protein gene, conservation (chicken, mouse), 14, 883

Transcription factor inhibitors IKB/MAD-3, encoding gene N F K B L localization to 14q13 (human),

14, 529

Transcription factors cellular DNA binding

HTLF, gene mapping and characterization (human), 13, 658 ILF, characterization and chromosomal mapping, 13, 665

hepatocyte nuclear, HNF-3a, HNF-3~3, HNF-3% and HNF-4, chromosomal localization (mouse), 13, 264

liver-enriched, C/EBP, DBP, AND HNF1/LFB-1, encoding genes, chromosomal localization (human, rat), 13, 293

MHC class II regulatory, RFX1 and RFX2, gene localization on 19p (human), 13, 1307

NF-KB p50/p105 subunits, encoding N F K B 2 gene localization to 4q24

(human), 14, 529 related subunit genes NFKB1 and NFKB2, mapping to regions

associated with translocations in leukemia (human), 13, 287 Transgenic animals

line 4 transgenic mice, insertional mutation-associated locus, genomic structure, 13, 159

Translocation breakpoint in Menkes syndrome in female patient, fine mapping and cloning,

14, 557 regional, in mapping 11q13 loci (human), 12, 738 Robertsonian, localization to satellite III DNA by FISH (human),

14, 924 t(2;13), of alveolar rhabdomyosarcoma, localization on physical

map of chromosome 2 (human), 13, 1150 X-chromosomal, in region of incontinentia pigment 1 locus

DNA markers between, isolation by comparative radiation hybrid PCR analysis, 14, 649

proximal Xp region spanning, radiation hybrid map (human), 14, 657

Xq13.1, of two X/A translocations in hypohidrotic ectodermal dysplasia female patients, gene mapping around, 14, 523

Translocations (3;8), in familial renal cell carcinoma and FRA3B, breakpoint, de-

tailed mapping in vicinity (human), 14, 412 in leukemia, associated regions, mapping of related NF-KB related

subunit genes NFKB1 and NFKB2, 13, 287 Transmission ratio distortion

t haplotype, functional basis, implications of Tcp-lO gene family concerted evolution (mouse), 12, 35

Transposable elements sea urchin, TU, homologous murine genomic DNA sequences as

genetically stable polydispersed repeats useful for RFLP analysis (mouse), 12, 357

Transposition 4.5 S RNA sequences (mouse), 12, 555

Transposons related element THE-43D, involvement in deletion-prone region of

dystrophin gene, 13, 594 Trisomy 21

escape from detection at interphase by FISH technique, role of variations in alphoid DNA sequences (human), 14, 113

Trophoblasts antigen, related DNA sequence, regional localization to human

chromosome 6q with somatic cell hybrids, 12, 693

Tropoelastin encoding gene, elements associated with alternative splicing (rat),

12, 651

Troponin T slow skeletal, gene assignment to 19q13.4 with somatic cell hybrids

and FISH (human), 13, 1374

Tumor cells expression of lp36-encoded p58 c*-1 protein kinase gene (human),

13, 613

hepatoblastoma, Hep-G-2, single DNA base mutations in, detection with mismatch repair enzymes (human), 14, 249

myeloid leukemia, HL60 hypoxanthine phosphoribosyltransferase gene duplications, mo-

lecular structure and genetic stability (human), 13, 788

and Werner syndrome fibroblasts, hypoxanthine phosphoribosyltransferase gene deletions, nucleotide sequence analysis (human), 13, 777


neuroblastoma, SK-N-SH, single DNA base mutations in, detection with mismatch repair enzymes (human), 14, 249

osteosarcoma, MG63, expression of thrombospondin II gene (human), 12, 421

Tumorigenesis related gene sequences, 11p15.5-specific libraries for identification,

13, 1274 Tumor necrosis factor receptors

type 1, gene TNFR1, structure and localization to chromosome 12p13 (human), 13, 219; e r r a t u m , 13, 1384

Tumors, see also Neoplasia alveolar rhabdomyosarcoma, associated t(2;13) breakpoint, localiza-

tion on physical map of chromosome 2 (human), 13, 1150 breast cancer, marker gene BCEI/pS2, physical linkage to homolo-

gous human spasmolytic protein gene mapped to 21q22.3 (-h,u- man), 13, 1328

colorectal cancer, gene for predisposing condition familial adenomatous polyposis, identification of germ line mutations, 13, 1162

familial renal cell carcinoma, and FRA3B, associated (3;8) translocation breakpoint, detailed mapping in vicinity (human), 14, 412

lung cancer, small biopsies from affected patients, chromosome 3]o genotyping with PCR-based RFLP analysis, 12, 221

malignant, associated amplified region at 11q13 analysis (human), 13, 21 14-Mb physical map of amplicon region (human), 13, 16

malignant astrocytomas and primitive neuroectodermal tumors, chromosome 11p15 deletions in, analysis (human), 14, 799

malignant melanoma associated 6q21 deletion region, genomic clones from, generation

by chromosome microdissection (human), 14, 680 linkage mapping with 172 microsatellite markers (human), 14,

939 locus for, exclusion from chromosome lp regions PND/D1S47

and MYCL1 in Australian pedigrees, 12, 18 medullary thyroid carcinoma type 1, disease screening in affected

families, implications of additional D 1 0 S 9 4 RFLPs and PCR- based variant detection systems, 13, 233

retinoblastoma, associated RB gene, hypervariability within, differences in great apes, 14, 1112

Wilms, associated gene WT1, genomic organization and expression (human), 12, 807

Tyrosine kinase, see Protein-tyrosine kinase Tyrosine phosphatase, see Protein-tyrosine-phosphatase

Ubiquitin -52-residue ribosomal protein fusion gene subfamily, identification

as primarily processed pseudogenes (human), 14, 520 UDP -N-acetylglucosamine:a-3 -D -mannoside fl- 1,2-N-acetylglucosa-

minyltransferase I, see a-l,3-Mannosyl-glycoprotein fl-l,2-N- acetylglucosaminyltransferase

UDPglucose-hexose-l-phosphate uridyltransferase gene cloning and sequencing and identification of mutation in ga-

lactosemia patients, 14, 474 missense mutations, characterization: different molecular mecha-

nisms for galactosemia, 12,596 UDP -glucnronosyltransferase

bile acid, gene PCR mapping to chromosome 4 (human), 13, 908 Urogenital tract

adult, male and female, strong expression of HOX4E gene (human), 13, 425

Usher syndrome type I gene USHIA, mapping to chromosome 14q (human), 14, 979 gene USHIB, mapping to chromosome l l q (human), 14, 988 linkage studies: exclusion results from Usher Syndrome Consor-

tium, 14, 707

localization of two genes to chromosome 11 (human), 14, 995 Uterus

adult, strong expression of HOX4E gene (human), 13, 425

Y

VAPSE, see Genes, variation affectingprotein structure or expression Variable number of tandem repeats

detection in dopamine transporter gene DAT1 mapped to 5p15.3 (human), 14, 1104

86-bp, within a-L-iduronidase gene, identification as basis for D 4 S l l l polymorphic locus (human), 14, 1119

highly polymorphic region-containing, near first exon of monoamine oxidase gene, characterization (human), 13, 896

systems at D21Sl12, characterization (human), 14, 816 identification with DNA clones on 11p15 (human), 13, 1296

Variants multiple, in subtelomeric regions of normal karyotypes (human),

14, 1019 Vasopressin receptors

type 2, encoding gene, and nephrogenic diabetes insipidus gene, colocalization in Xq28 region (human), 13, 1350

Versican encoding gene CSPG2, mapping to 5q12-q14 (human), 14, 845

Vinculin gene VCL, mapping on 10q with complementary physical and ge-

netic techniques (human), 13, 1347 Viruses

inducible genes IFL56K and IFI-54K, mapping to 10q23-q24 (human), 13, 458

VNTR, see Variable number of tandem repeats

W

Werner syndrome derived fibroblasts, and HL60 cells, hypoxanthine phosphoribosyl-

transferase gene deletions, nucleotide sequence analysis, 13, 777

×

X chromosome, see Chromosome X X-inactivation

factors other than, role in methylation of DXS255 hypervariable locus 5' CCGG site (human), 14, 70

inactivation center, R p s 4 mapping in vicinity (mouse), 12, 363 X irradiation

and cell fusion, in generation of panel of somatic cell hybrids containing fragments of human chromosome 12p, 12, 206

in production of radiation-reduced hybrids for myotonic dytrophy locus mapping, 13, 243

Y

YAC, see Yeast artificial chromosomes Y chromosome, see Chromosome Y Yeast artificial chromosomes

based libraries, automatable screening based on oligonucleotide-ligation assay, 13, 935

clones chimeric, detection and characterization by FISSH (human), 14,

536 chromosomal mapping by FISH technique: single-yeast colony

PCR and multiple labeling (human), 14, 181 fluorescence in s i tu hybridization after A l u - P C R amplification,

13, 826 in cloning of putative G protein mapping to MHC class I region

(human), 14, 857


contigs assembly using moderately repetitive sequences pTR5 and LF1 in

human Xq24-q28 DNA (human), 12, 264 with complete Duchenne muscular dystrophy gene, construction

(human), 12, 465 encompassing a5(IV) collagen gene, construction (human), 14,

634 encompassing type 1 neurofibromatosis gene, construction (hu-

man), 13, 672 with markers tightly linked to myotonic dystrophy locus on chro-

mosome 19, characterization, 13, 526 1.2-Mb, spanning iduronate sulfatase gene, isolation: identifica-

tion of heterogeneous deletions in Hunter syndrome patients, 12, 52

spanning defined chromosomal regions, construction with random sequence-tagged site strategy (human), 14, 256

around steroid sulfatase gene, isolation and characterization (human), 12, 7

2.6-Mb, spanning dystrophin gene, construction with STS-based approach (human), 12, 474

in identification of CA repeat at T cell receptor a chain locus (human), 13, 820

inserts, walking with sequence-tagged sites from end fragments of, in mapping human chromosomes, 14, 241

library containing 1.5 equivalents of human chromosome 21, construction and characterization, 14, 481

library for Xpter-Xq27.3, construction and characterization (human), 12, 526

mapping by FISH with Alu-PCR-generated probes, 13, 726 for mapping proximal 17p, identification with sequence-tagged

sites, 13, 551 in mapping regulators of complement activation gene cluster RCA

(human), 12, 289 molecular linkage of human CTLA4 and CD28 Ig superfamily genes

in, 13, 856 ordered libraries, automated gridding for screening, development

and application, 12, 534 PCR amplification and analysis, 13, 1303 in physical mapping of Dictyostelium discoideum genes to specific

chromosomes, 13, 49 from Plasmodium falciparum, construction of stable library and

cloning of telomeric DNA fragments, 14, 332 region-specific, identification by pools of Alu element-mediated

PCR probes labeled via linear amplification, 14, 931 in walking, cloning, and mapping: contig encompassing D21S13 and

D21S16 (human), 12, 42

z ~ test in statistical analysis of in situ hybridization data, derivation and

application, 12, 675

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Cumulative subject index volumes 12–14

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