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Fig. 13-1, Page 307
Gene Expression
Pg. 242
Deoxyribonucleotide
DNA Bases
Pg. 242
Pg. 242
Deoxyribonucleotide
A
DNA Strand
Pg. 244
DNA Structure5’
3’ 5’
3’
Fig. 1-8,Page 5
Base Pair Structures
Pg. 368
Pg. 242
Ribonucleotide
OH
RNA Bases
Pg. 242
Fig. 13-7,Page 314
Possible Reading Frames for RNA
Fig. 13-7,Page 314
Mutation (Chapt. 15)
Classification of mutations
Mechanisms of mutagenesis
DNA repair pathways
OldOld
DNA Replication
Pg. 264
Template-dependent
Semi-conservative
Old OldNew New
Pg. 368
Thymine Base Pairing
Standard ATBase pair
Tautomeric ShiftBase pair
Standard Base PairsTautomeric ShiftBase Pairs
A T
G C
T G
G T
A C
C A
Rare tautomers are shown in Red
Tautomeric Shift of “A”
Pg. 369
DNA moleculewith TA CGtransition mutation
Affected base pair
“Spontaneous” Insertion/Deletion Mutations
Pg. 371
Ethylmethane Sulfonate Mutagenesis
Pg. 370
Intercalating Agents
Ethidium Bromide
Intercalation
Electromagnetic Spectrum
(XP Photosensitivity: 280 to 310 nm)UVC 100 - 290 nmUVB 290 - 320 nmUVA 320 - 380 nm
Visible Light 380 - 780 nmPg. 371
DNA damage induced by UV light
Fig. 15-9Pg. 372
Nucleotide Excision Repair (NER) Pathway
Sickle Cell Anemia Sickle Cell TraitNormal
Hemoglobin
ß-globin(146 amino acids)
ß-globin(146 amino acids)
Molecular Genetics of Sickle-Cell Anemia
HbA Allele
HbS Allele
Hb-A
Hb-S
Codon #6
Pg. 350
Hb-A Hb-S
HbAHbA HbSHbS HbAHbS
Hb-A
Mutant ß-globin Proteins
Chloride Ion Channel Gene and Protein Involved in Cystic Fibrosis
Missense mutation
Nonsense mutation
Frame-shift mutation
Deletion, in-frame
CFTR Gene
Mutations
Healthy Lung
Lung epithelialcells
Lung epithelialcells
AAorAa
Lung epithelialcells
Lung epithelialcells
Cystic Fibrosis Lung
aa
Huntington’s Disease
Cell from “Hh” individual
Huntingtin protein aggregates
Huntington’s Disease
Trinucleotide Repeat Diseases
Genetic Technologies
Genetic Testing
Gene Therapy
Genomics
“Carrier” Testing
Presymptomatic Testing
Pre-implantation Embryos (PGD)Prenatal (amniocentesis, CVS)NewbornsAdults
Genetic Testing
Molecular Genetics of Sickle-Cell Anemia
HbA Allele
HbS Allele
Hb-A
Hb-S
Codon #6
Genetic Testing for Sickle Cell Anemia
HbS
HbA
Fig. 22-9Pg. 556MstII cut sites
8 cell Embryo from IVF
Remove onecell for genetic testing
Pre-implantation Genetic Diagnosis (PGD)
Genetic Technologies
Genetic Testing
Gene Therapy
Genomics
Removal viral genes
Splice in therapeutic gene
Viral Vectors for Gene Therapy
Gene Therapy for Severe Combined Immunodeficiency
Fig. 22-10Pg. 561
“aa” individual
“aa” cells
Virus with “A” allele
“Aaa” cells
Cloned “A” allele
CF Gene Therapy
Adenovirus withWild Type CFTR Allele
Ganciclovir
Phosphorylated by Thymidine Kinase (TK) enzyme
Mitochondrial Genetics
Cell Biology of MitochondriaMitochondrial genomeDiseases linked to mitochondria
Eukaryotic Cell
Electron Micrograph of Mitochondrial DNA
Fig. 9-7Pg. 219
13 proteins encodedby human mitochondrialgenome
Diseases Linked to Mitochondrial Mutations
HeteroplasmyMutant Mitochondrion
Normal Mitochondrion
Cytogenetics
Chromosome structureChromosomal basis for genotypeKaryotypesMeioisisChromosome mutationsDosage compensation
M-Phase Chromosome
Interphase (G1, S, G2)Chromosomes
X Chromosome
Giemsa Stain
X Chromosome
155 Million base pairs (bp)1336 Genes
Euploid Human Karyotypes
Female Male
Fig. 7-6
Chromosomal Basis for Genotype
Chromosome 7
1367 genes
158 million bp of DNA
HomologousChromosome 7
P M
1367 genes
158 million bp of DNA
HomologousChromosome 7
RNACFTRProtein
P M
WT CFTRAllele
Chromosomal Basis for Genotype
RNA CFTRProtein
WT CFTRAllele
HomologousChromosome 7
P M
Chromosomal Basis for Genotype
LF CFTRAllele
LF CFTRAllele
HomologousChromosome 7
P M
Chromosomal Basis for Genotype
RNA CFTRProtein
WT CFTRAllele
LF CFTRAllele
HomologousChromosome 7
RNACFTRProtein
P M
WT CFTRAllele
Chromosomal Basis for Genotype
LF CFTRAllele
Down (Trisomy 21) Karyotype
Chromosome 21
47 million bp
352 Genes
Turner Syndrome Karyotype
Amniocentesis
Karotypeanalysis 14-16 weeks
Fig. 22-8Pg. 555
Chorionic Villus Sampling (CVS)
Karotypeanalysis
Fig. 22-8Pg. 555
10-12 weeks
Fig. 2-8
Gametes(haploid cells)
Pairing of Homologous Chromosomes
P
M
Fig. 2-13, 2-14
SynaptonemalComplex
Single Crossover (SCO)
Paternal
Maternal
PairedHomologousChromosomes
Fig. 2-8
Gametes(haploid cells)
Male Female
Fig. 2-11
Meiotic Nondisjunction
DisomicGametes
NullisomicGametes
Meiotic Nondisjunction
MonosomicGametes
NullisomicGametes
DisomicGametes
X Chromosome (1336 Genes)
X Chromosome (1336 Genes)
Female Male
X Chromosome Inactivation
Inactive X Chromosome (“Barr Body”)
Fig. 7-9
Anhidrotic Ectodermal Dysplasia
Fig. 7-12
G C C T A C G A T TC G G A T G C T A A
G C C T A C G A T TC G G A T G C T A A
G C C T A C G A T TC G G A T G C T A A
G C C T A C G A T TC G G A T G C T A A
Reciprocal Translocation
Non-Reciprocal Translocation
Translocation in CML
Blood Cell Formation
21
14
14;21 Translocation
21
14;21
14
FamilialDown Syndrome
Karyotype of offspring
Cri-du-Chat Karyotype
Cancer Cell Karyotype