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Molecular Genetics:Molecular Genetics: study of the structure and study of the structure and function of chromosomes and genesfunction of chromosomes and genes
Heredity:Heredity: transmission of characteristics from transmission of characteristics from parents to offspringparents to offspring
Trait:Trait: two contrasting choicestwo contrasting choicesGenotype:Genotype: genetic makeup of organism (TT, Tt, tt)genetic makeup of organism (TT, Tt, tt)Phenotype:Phenotype: what is physically observed (tall, short)what is physically observed (tall, short)Heterozygous:Heterozygous: two different alleles (Tt); hybridtwo different alleles (Tt); hybridHomozygous:Homozygous: two identical alleles (TT, tt); two identical alleles (TT, tt);
purebredpurebred
Austrian Monk, born Austrian Monk, born in 1822in 1822
University of ViennaUniversity of Vienna Job at monastery was Job at monastery was
to teach science and to teach science and tend the gardentend the garden
Major study done on Major study done on characteristics of pea characteristics of pea plantsplants
Pollination:Pollination: pollen grains from male part of plant pollen grains from male part of plant fertilize the egg from the female portion of the plantfertilize the egg from the female portion of the plant
Self-Pollination:Self-Pollination: pollen and egg from same pollen and egg from same plant; all offspring characteristics the same as plant; all offspring characteristics the same as parent (Pea Plants)parent (Pea Plants)
Cross- Pollination:Cross- Pollination: pollen and eggs from pollen and eggs from different plants; offspring characteristics formed different plants; offspring characteristics formed from a combination of parental genesfrom a combination of parental genes
Male:Male: Stamen:Stamen: anther + anther +
filamentfilament Anther:Anther: produces pollen produces pollen
grainsgrains Filament:Filament: holds up holds up
antheranther Female:Female:
Stigma:Stigma: top of pistil, top of pistil, sticky to catch pollensticky to catch pollen
Style:Style: tube leading from tube leading from stigma to ovarystigma to ovary
Ovary:Ovary: contains ovulescontains ovules Ovules:Ovules: when fertilized when fertilized
will become seedswill become seeds
Closed petalsClosed petals Always self-pollinationAlways self-pollination Purebred:Purebred: if allowed to if allowed to
self-pollinate, all self-pollinate, all offspring identical to offspring identical to parentsparents EX:EX: all short, tallall short, tall
Experiment:Experiment: Mendel Mendel prevented self-prevented self-pollination by removing pollination by removing stamen and using a stamen and using a paint brush to transfer paint brush to transfer pollen grains to stigmapollen grains to stigma
ResultsResults Hybrids:Hybrids: produced by produced by
crossing parents with crossing parents with different characteristicsdifferent characteristics
Dominant Traits:Dominant Traits: characteristic that when present characteristic that when present is always expressedis always expressed
Recessive Traits:Recessive Traits: masked by dominant trait; only masked by dominant trait; only appears if there are two copiesappears if there are two copies
P-Generation:P-Generation: purebred parent generation; purebred parent generation; produce offspring identical to themselvesproduce offspring identical to themselves Ex:Ex: Mendel found: tall/tall produced only tall, Mendel found: tall/tall produced only tall,
short/short only shortshort/short only short F1- Generation:F1- Generation: first filial generation; produced by first filial generation; produced by
cross-pollinationcross-pollination Ex:Ex: Mendel found tall/short produced tall plantsMendel found tall/short produced tall plants
F2- Generation:F2- Generation: second filial generation; offspring second filial generation; offspring of crossed F1of crossed F1 Ex:Ex: tallF1/tallF1 = tall and short plantstallF1/tallF1 = tall and short plants
A diagram to aid in predicting A diagram to aid in predicting the probability that certain the probability that certain traits will be inherited. traits will be inherited.
Monohybrid Cross:Monohybrid Cross: Punnett Punnett square involving only one trait square involving only one trait (2x2)(2x2)
TTTT
TtTt
TtTt tttt
F2 Generation: Tt x Tt
Parent Generation
TT or ttF1 Generation TT x tt
T Tt
tTTtt
TtTt
TTtt
TtTt
Genotypic Ratio:4:0 TtPhenotypic Ratio:4:0 tall
T tT
t
Genotypic Ratio:1:2:1
Phenotypic Ratio:3:1
Gene:Gene: individual factors that do not blend with individual factors that do not blend with one another; control traits in living thingsone another; control traits in living things
Allele:Allele: each alternative for a gene; each alternative for a gene; genes/chromsomes occur in pairs; genes/chromsomes occur in pairs; Ex:Ex: T and t T and t
Law of Segregation:Law of Segregation: Alleles are segregated Alleles are segregated (separated) during meiosis. Only one allele (separated) during meiosis. Only one allele from parent is present in gamete. Occurs from parent is present in gamete. Occurs during anaphase when chromatids separate.during anaphase when chromatids separate.
Law of Independent Assortment:Law of Independent Assortment: factors for factors for different traits are separated during meiosis; different traits are separated during meiosis; dominant traits are not necessarily inherited dominant traits are not necessarily inherited togethertogether
How can you tell if a phenotypically How can you tell if a phenotypically dominant organism is homozygous or dominant organism is homozygous or heterozygous?heterozygous?
Cross with a recessiveCross with a recessive If homozygous: offspring will all be If homozygous: offspring will all be
dominant.dominant. If heterozygous: offspring will be both If heterozygous: offspring will be both
dominant and recessive.dominant and recessive.
Complete Dominance:Complete Dominance: when one allele when one allele totally masks the other alleletotally masks the other allele
Dominant trait occurs with TT or Tt, recessive Dominant trait occurs with TT or Tt, recessive only ttonly tt
Ex:Ex: Tall plants, rolling tongue upwards, crossing Tall plants, rolling tongue upwards, crossing handshands
Ratio when crossing two heterozygous: 3:1Ratio when crossing two heterozygous: 3:1
Incomplete Incomplete Dominance:Dominance: occurs occurs when two or more when two or more alleles influence the alleles influence the phenotype; when phenotype; when heterozygous, heterozygous, results in a third results in a third BLENDED BLENDED phenotypephenotype Ex:Ex: Red and white Red and white
flowers = pinkflowers = pink Ratio: 1:2:1Ratio: 1:2:1
Codominance:Codominance: occurs when both occurs when both alleles for a gene alleles for a gene are expressed in a are expressed in a herterozygous herterozygous offspring; DO NOT offspring; DO NOT BLEND, both are BLEND, both are equally dominantequally dominant Ex:Ex: Roan Horse Roan Horse Ratio: 1:2:1Ratio: 1:2:1
Recessive Recessive Defective Defective
Hemoglobin on Hemoglobin on RBCsRBCs
Anemia (loss of Anemia (loss of blood cells)blood cells)
Damage to brain, Damage to brain, heart, lungsheart, lungs
Primarily in Primarily in African African Americans; 1/10 Americans; 1/10 in US is a carrierin US is a carrier
RecessiveRecessive Point mutation stops Point mutation stops
production of a protein in production of a protein in the lungs and pancreasthe lungs and pancreas Prevents cells from Prevents cells from
transporting Cl- ions out transporting Cl- ions out of the cellof the cell
Lung CongestionLung Congestion Abnormally thick mucus Abnormally thick mucus
lining in lungslining in lungs Chronic Bacterial Chronic Bacterial
Infections (pneumonia)Infections (pneumonia) Treated with antibiotics, Treated with antibiotics,
lung transplant, and new lung transplant, and new genetic engineering genetic engineering treatmentstreatments
RecessiveRecessive Lack of enzyme Lack of enzyme
hexosaminidase A (hex A), hexosaminidase A (hex A), which breaks down fatty which breaks down fatty acids in brain in nervous acids in brain in nervous tissuetissue
Symptoms appear at 4-6 Symptoms appear at 4-6 monthsmonths
Death by 5 yearsDeath by 5 years Found primarily in those Found primarily in those
descendants of Ashkenazi descendants of Ashkenazi JewsJews
1/30 American Jews carry 1/30 American Jews carry the genethe gene
Autosomal- DominantAutosomal- Dominant Lethal Lethal Begins around ages 35-45Begins around ages 35-45 First symptoms; mild First symptoms; mild
forgetfulness and irritabilityforgetfulness and irritability Lose control over musclesLose control over muscles Genetic Marker:Genetic Marker: short short
section of DNA that has a section of DNA that has a close association with a close association with a known geneknown gene
Presence of gene marker Presence of gene marker can indicate the presence of can indicate the presence of huntington’s allelehuntington’s allele
People with marker have People with marker have 90% chance of developing 90% chance of developing Huntington’sHuntington’s
Gene Marker and gene so Gene Marker and gene so close on chromosome rarely close on chromosome rarely separated by crossing over separated by crossing over during meiosisduring meiosis
Dominant DisorderDominant Disorder 1/20,000 people1/20,000 people
Believed to be caused by a Believed to be caused by a mutation in the fibrillin gene mutation in the fibrillin gene on chromosome 15on chromosome 15
Connective Tissue defectsConnective Tissue defects Dislocation of lens in eyeDislocation of lens in eye Rupture of aorta (weak Rupture of aorta (weak
vessel walls)vessel walls) ArachnodactylyArachnodactyly – “spider – “spider
fingers”fingers” Elongated body, faceElongated body, face Pectus Excavatum (caved in Pectus Excavatum (caved in
chest)chest)
Abraham Lincoln?Abraham Lincoln? Descendents of Descendents of
Lincoln’s great-great Lincoln’s great-great grandfather (8grandfather (8thth generation) generation) diagnosed with diagnosed with Marfan’sMarfan’s Lincoln could have Lincoln could have
had a mild form of had a mild form of Marfan’sMarfan’s
Should we test Should we test Lincoln’s DNA?Lincoln’s DNA?
Do not contain enzyme phenylalanine Do not contain enzyme phenylalanine hydroxlyase (PAH) that breaks down hydroxlyase (PAH) that breaks down amino acid phenylalanine into amino amino acid phenylalanine into amino acid tyrosineacid tyrosine Phenylalanine builds up in brainPhenylalanine builds up in brain Toxic to central nervous system (CNS)Toxic to central nervous system (CNS) Mental RetardationMental Retardation
Tested at birthTested at birth PKU – 1/10,000 PKU – 1/10,000
U.S. U.S. 1/50 carry PKU allele 1/50 carry PKU allele Regulated by Strict dietRegulated by Strict diet
Low protein: no meat, eggs, dairyLow protein: no meat, eggs, dairy No Aspartame: sugar substitute sold No Aspartame: sugar substitute sold
as Equal or NutraSweetas Equal or NutraSweet Contains amino acid phenylalanine – Contains amino acid phenylalanine –
50%50%
Cross that involves two traits; more allele Cross that involves two traits; more allele combinations possible; 4x4 Punnett Squarecombinations possible; 4x4 Punnett Square Ex:Ex: Peas Peas Green/Yellow & Round/Wrinkled Green/Yellow & Round/Wrinkled Ratio: 9:3:3:1Ratio: 9:3:3:1
3 or more alleles for a single trait3 or more alleles for a single trait EX:EX: ABO blood groups – blood types ABO blood groups – blood types Characterized by the presence or absence of antigens Characterized by the presence or absence of antigens
4 Types: A, B, AB, o4 Types: A, B, AB, o A Blood has A antigen but no B, AB has both, O has neitherA Blood has A antigen but no B, AB has both, O has neither Represented by I (isoagglutination)Represented by I (isoagglutination)
CodominantCodominant
Sex- Influenced:Sex- Influenced: Presence of male or female Presence of male or female
hormones influences the expression hormones influences the expression of the traitof the trait
Males and females with the same Males and females with the same genotype will have different genotype will have different phenoypesphenoypes
Ex: baldness; B=baldness, B’=normal Ex: baldness; B=baldness, B’=normal hairhair
BB=bald (male/female)BB=bald (male/female) B’B’=normal hair (male/female)B’B’=normal hair (male/female) BB’= bald (male) normal (female)BB’= bald (male) normal (female)
Presence of gene on a Presence of gene on a sex chromosome (X or sex chromosome (X or y)y)
X chromosome is larger X chromosome is larger than y than y more genes more genes carried on the Xcarried on the X
X-Linked Genes:X-Linked Genes: genes genes found on X chromosomefound on X chromosome Appear mostly in males Appear mostly in males Only one copy of X; Only one copy of X;
nothing to counteract nothing to counteract “bad gene”“bad gene”
Females would need Females would need two copies to express two copies to express traittrait
X-linked recessiveX-linked recessive Cannot distinguish Cannot distinguish
between different colorsbetween different colors Most common type is Most common type is
red/green colorblindnessred/green colorblindness Heterozygous females Heterozygous females
have mosaic retinas in have mosaic retinas in which they have patches of which they have patches of color visioncolor vision
Heterozygous female is Heterozygous female is considered a carrierconsidered a carrier
X-linked recessiveX-linked recessive Most Common in malesMost Common in males ““Bleeder’s Disease”Bleeder’s Disease” Missing clotting factorMissing clotting factor Bleeding spontaneously Bleeding spontaneously
and in jointsand in joints Queen Victoria: Queen Victoria:
descendents affected descendents affected with hemophilia with hemophilia Alexei RomanovAlexei Romanov
X-linked recessiveX-linked recessive Most Common in malesMost Common in males
1/35001/3500 Muscle EnlargementMuscle Enlargement DystrophinDystrophin
Protein that provides Protein that provides support for the cell; support for the cell; without it, cell enlarges without it, cell enlarges and explodesand explodes
X-linked recessiveX-linked recessive Most Common in malesMost Common in males ““Lorenzo’s Oil”Lorenzo’s Oil” Degradation of myelin Degradation of myelin
sheath surrounding nerves sheath surrounding nerves (insulation)(insulation)
Current News: Current News: Oil not as effective as Oil not as effective as
previously thoughtpreviously thought Cholesterol lowering drug, Cholesterol lowering drug,
Lovastatin seems to workLovastatin seems to work Bone Marrow Transplants Bone Marrow Transplants
work in some caseswork in some cases Lorenzo Odone turned 27 Lorenzo Odone turned 27
on May 29, 2005 (Still on May 29, 2005 (Still completely paralyzed)completely paralyzed)
Barr BodyBarr Body Only in femalesOnly in females Inactivated X chromosomeInactivated X chromosome Random whether mom’s or Random whether mom’s or
dad’s Xdad’s X Dark staining mass in Dark staining mass in
nucleusnucleus Allows for equal genetic Allows for equal genetic
expression between males expression between males and females (both express and females (both express 1 X)1 X)
X-inactivation:X-inactivation: EX:EX: Calico CatCalico Cat
Coat color is X-linked Coat color is X-linked recessiverecessive
Large patches of color Large patches of color (Black or orange)(Black or orange)
Not in males because they Not in males because they only have 1 Xonly have 1 X
Genomic Imprinting:Genomic Imprinting: variation in variation in phenotype expression depending phenotype expression depending on which parent gave the on which parent gave the chromosomechromosome Chromosome “remembers” which Chromosome “remembers” which
parent it came fromparent it came from EX:EX: Deletion of Chromosome 15 Deletion of Chromosome 15 Prader-Willi:Prader-Willi: uncontrollable eating, uncontrollable eating,
diabetes, mental retardationdiabetes, mental retardation Deletion of portion of paternal 15Deletion of portion of paternal 15
Angleman’s:Angleman’s: behavior problems, some behavior problems, some mental retardationmental retardation
Deletion of portion of maternal 15Deletion of portion of maternal 15
Holandric Traits:Holandric Traits: genes on the y chromosome; genes on the y chromosome; carry genes for male sexual characteristicscarry genes for male sexual characteristics Absence of these genes causes female Absence of these genes causes female
developmentdevelopment Small arm of y chromosome responsible for Small arm of y chromosome responsible for
individuals that have a sex chromosome individuals that have a sex chromosome combination that does not match their combination that does not match their appearanceappearance
XX males and XY females due to absence XX males and XY females due to absence or presence of SRY factoror presence of SRY factor
Ghengis KhanGhengis Khan Mongolian warrior 13Mongolian warrior 13thth century century 8% of men living in region that was once 8% of men living in region that was once
Mongolian empire have same y Mongolian empire have same y chromosomechromosome
mDNA inherited strictly mDNA inherited strictly from the motherfrom the mother
600 bp region that is 600 bp region that is extremely different in extremely different in unrelated individualsunrelated individuals
Romanovs:Romanovs: Tsar Nickolas II of Tsar Nickolas II of
Russia murdered Russia murdered during Bolshevik during Bolshevik Revolution in 1918Revolution in 1918
Remains identified by Remains identified by comparing mDNA to comparing mDNA to maternal descendantsmaternal descendants
Anna Anderson: Anna Anderson: pretended to be pretended to be AnastasiaAnastasia
Proved false by mDNAProved false by mDNA
Pedigree:Pedigree: family record that shows how a trait family record that shows how a trait is inherited over several generationsis inherited over several generations Shows both recessive and dominant traitsShows both recessive and dominant traits First Step in genetic counselingFirst Step in genetic counseling
Symbols:Symbols:Male:
Female:Carrier:
Marriage Line:
Offspring: Fraternal Twins: Identical Twins:
Gene Mutation:Gene Mutation: affects either one nucleotide affects either one nucleotide or one codonor one codon
Substitution:Substitution: one nucleotide is replaced with one nucleotide is replaced with a different nucleotide resulting in a new a different nucleotide resulting in a new codoncodon If new codon codes for same amino acid – no effectIf new codon codes for same amino acid – no effect If new codon codes for a different amino acid or If new codon codes for a different amino acid or
stop codon – incorrect proteinstop codon – incorrect protein Ex:Ex: Sickle Cell Anemia Sickle Cell Anemia
Substitution: Adenine replaced by Thymine in a single Substitution: Adenine replaced by Thymine in a single codon; results in a defective form of hemoglobincodon; results in a defective form of hemoglobin
Frame-shift Mutation:Frame-shift Mutation: caused by additions caused by additions and deletions of one nucleotide; all codons and deletions of one nucleotide; all codons after mutation are grouped incorrectlyafter mutation are grouped incorrectly Mutation at beginning of gene is worse than near Mutation at beginning of gene is worse than near
the end of genethe end of gene
Germ-Cell:Germ-Cell: occurs in gametes; only affect occurs in gametes; only affect offspringoffspring
Somatic Cell:Somatic Cell: affects body cells; only affects affects body cells; only affects organismorganism
Lethal:Lethal: causes death; often before birth causes death; often before birth (miscarriages)(miscarriages)
Chromosome:Chromosome: changes to part or the whole changes to part or the whole chromosome; cannot be repaired by enzymeschromosome; cannot be repaired by enzymes
Deletion:Deletion: loss of a piece or whole loss of a piece or whole chromosomechromosome
Inversion:Inversion: segment of chromosome breaks off segment of chromosome breaks off and reattaches in the reverse order on same and reattaches in the reverse order on same chromosomechromosome
Translocation:Translocation: piece of chromosome breaks piece of chromosome breaks off and reattaches to a nonhomologous off and reattaches to a nonhomologous chromosomechromosome
Down’s Syndrome: Trisomy 21; 3Down’s Syndrome: Trisomy 21; 3rdrd 21 can 21 can translocate to chromosome 13 (young mothers)translocate to chromosome 13 (young mothers)
Duplication:Duplication: part of chromosome attaches to part of chromosome attaches to homologous chromosome giving two copies homologous chromosome giving two copies of gene on that chromosomeof gene on that chromosome
Nondisjunction:Nondisjunction: failure of a chromosome to failure of a chromosome to separate from its homologous chromosome separate from its homologous chromosome during anaphase of meiosis; one gamete during anaphase of meiosis; one gamete receives extra copy of chromosome other receives extra copy of chromosome other gamete does not receive onegamete does not receive one
Karyotype:Karyotype: chromosomes chromosomes are stained and are stained and photographed under the photographed under the microscope, cut from photo microscope, cut from photo and arranged by size and and arranged by size and shape; can detect shape; can detect chromosomal abnormalitieschromosomal abnormalities
Monosomy:Monosomy: a zygote with a zygote with only 45 chromosomes; one only 45 chromosomes; one copy of a chromosomecopy of a chromosome
Trisomy:Trisomy: three copies of a three copies of a chromosome; 47 chromosome; 47 chromosomes totalchromosomes total Both result from Both result from
nondisjunctionnondisjunction
Trisomy 21Trisomy 21 Mild to severe mental Mild to severe mental
retardationretardation Distinct Facial Distinct Facial
FeaturesFeatures Heart DefectsHeart Defects Fingerprints – SworlFingerprints – Sworl Most Common Birth Most Common Birth
Defect – 1/700 birthsDefect – 1/700 births Mother’s Age over 40 – Mother’s Age over 40 –
1/801/80 Problems during Problems during
OogenesisOogenesis
Trisomy of sex Trisomy of sex chromosomes; XXy chromosomes; XXy malemale
Feminine Feminine Characteristics, Characteristics, InfertileInfertile
George George Washington?Washington? No Children – Sterile?No Children – Sterile? Dental ProblemsDental Problems Height – Very tall for Height – Very tall for
generationgeneration Still InconclusiveStill Inconclusive
Monosomy of Sex Monosomy of Sex Chromosomes; Chromosomes; XO femaleXO female
InfertileInfertile DwarfismDwarfism OverweightOverweight Some mental Some mental
retardationretardation Webbed NeckWebbed Neck
Trisomy 18Trisomy 18 Elfin AppearanceElfin Appearance Low set earsLow set ears Malformation of Malformation of
many organs – many organs – specifically specifically heart/lungsheart/lungs ““Blue Babies” due to Blue Babies” due to
lack of oxygenlack of oxygen 90% die within first 90% die within first
6 months6 months
Trisomy 13Trisomy 13 Cleft Lip and Cleft Lip and
PalatePalate Polydactyl – Polydactyl –
more than ten more than ten fingers/toesfingers/toes
1/6000 births1/6000 births Most die within Most die within
first yearfirst year
““Cat’s Cry” Cat’s Cry” SyndromeSyndrome
Deletion of a Deletion of a portion of portion of Chromosome 5Chromosome 5
Mental Mental RetardationRetardation
Invitrofertilization (IVF):Invitrofertilization (IVF): “test tube babies”“test tube babies” Procedure:Procedure:
Woman treated with fertility drugs to Woman treated with fertility drugs to regulate menstrual cycle and develop high regulate menstrual cycle and develop high quality eggsquality eggs Eggs collected using a needle Eggs collected using a needle Fertilization occurs in a Petri dishFertilization occurs in a Petri dish Within 72 hours embryos transferred to Within 72 hours embryos transferred to uterusuterus Multiple births often occur Multiple births often occur
Artificial Insemination:Artificial Insemination: fertilization occurs fertilization occurs within uterus (in vivo)within uterus (in vivo)
Sperm inserted through a catheter passing Sperm inserted through a catheter passing through the cervix into the uterusthrough the cervix into the uterus
High frequency sound High frequency sound waves with computer waves with computer produce imageproduce imageLocate fetus during Locate fetus during amniocentesis and CVSamniocentesis and CVSEstimate fetal age, sex, Estimate fetal age, sex, twinstwins600 disorders can be 600 disorders can be diagnosed prenatallydiagnosed prenatallySpina bifida, heart Spina bifida, heart defects, dwarfism, defects, dwarfism, hydrocephalus (water on hydrocephalus (water on brain)brain)
Fetal Cells obtained from either Fetal Cells obtained from either amniocentesis or chorionic villi amniocentesis or chorionic villi sampling (CVS)sampling (CVS) Cultured and a karyotype created Cultured and a karyotype created to diagnose genetic disordersto diagnose genetic disorders Alphafetoproteins (AFP) levels Alphafetoproteins (AFP) levels indicated in sample; different levels indicated in sample; different levels signal defectssignal defects
Low AFP levels Down’s Syndrome
High AFP levelsSpina Bifida: spinal cord not contained within spinal columnTwins
Genetic Screening:Genetic Screening: a person with a person with family history for genetic disorders family history for genetic disorders are screened before deciding to have are screened before deciding to have childrenchildren
Karyotype of individual created Karyotype of individual created to check for any chromosomal to check for any chromosomal abnormalitiesabnormalities
Genetic Counseling: couples at risk for having children with genetic disorder seek medical guidance to determine their chances of having a child with a disorder
Punnett Squares
Needle removes Needle removes small amount of small amount of amniotic fluid from amniotic fluid from sac surrounding babysac surrounding baby14th – 16th week 14th – 16th week Fetal cells and Fetal cells and proteins are analyzedproteins are analyzedKaryotypeKaryotype
Through cervix and Through cervix and vagina, remove vagina, remove sample of chorion sample of chorion (tissue between uterus (tissue between uterus and placenta)and placenta)
Same DNA as babySame DNA as baby 88thth – 10 – 10thth week week Fast results since cells Fast results since cells
grow fastergrow faster Dangerous to fetusDangerous to fetus
Identify embryos that do not carry gene for Identify embryos that do not carry gene for inherited diseaseinherited disease
Cystic Fibrosis, sickle cell anemiaCystic Fibrosis, sickle cell anemia Reduces the risk diseases are passed on to children Reduces the risk diseases are passed on to children Genetic Analysis of one cell from embryo before Genetic Analysis of one cell from embryo before
implantation implantation Biopsied with needle under microscope; Biopsied with needle under microscope;
doesn’t harm development of healthy fetuses doesn’t harm development of healthy fetuses (cells – blastomeres)(cells – blastomeres)
Only healthy embryos implanted; some are Only healthy embryos implanted; some are saved for later usesaved for later use
DOES NOT ALTER genetic materialDOES NOT ALTER genetic material DOES NOT always occur prior to in vitroDOES NOT always occur prior to in vitro
PGD for X-Linked:PGD for X-Linked: sex determination sex determination Only not at risk females are implantedOnly not at risk females are implanted Gender selection and family balancingGender selection and family balancing Check for Huntington’s disease, CF, Check for Huntington’s disease, CF,
chromosomal translocation when one parent chromosomal translocation when one parent has a translocation and they cause has a translocation and they cause miscarriages in those babies producedmiscarriages in those babies produced
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http://images.google.com/imgres?imgurl=http://www.synapses.co.uk/genetics/snap1.gif&imgrefurl=http://www.synapses.co.uk/genetics/http://images.google.com/imgres?imgurl=http://www.synapses.co.uk/genetics/snap1.gif&imgrefurl=http://www.synapses.co.uk/genetics/ssg14.html&h=289&w=284&sz=5&tbnid=1lEcYZJKXbIJ:&tbnh=110&tbnw=108&hl=en&start=4&prev=/images%3Fq%3Dincompletessg14.html&h=289&w=284&sz=5&tbnid=1lEcYZJKXbIJ:&tbnh=110&tbnw=108&hl=en&start=4&prev=/images%3Fq%3Dincomplete%2Bdominance%26svnum%3D10%26hl%3Den%26lr%3D (Incomplete Dominance)%2Bdominance%26svnum%3D10%26hl%3Den%26lr%3D (Incomplete Dominance)
http://images.google.com/imgres?imgurl=http://www.equusite.com/articles/basics/colors/images/basicsColorsRedRoan.jpg&imgrefurl=http://http://images.google.com/imgres?imgurl=http://www.equusite.com/articles/basics/colors/images/basicsColorsRedRoan.jpg&imgrefurl=http://www.equusite.com/articles/basics/colors/www.equusite.com/articles/basics/colors/colorsRoan.shtml&h=225&w=150&sz=14&tbnid=g_vyrPiu8fYJ:&tbnh=102&tbnw=68&hl=en&start=1&prev=/images%3Fq%3Droan%2BhorsecolorsRoan.shtml&h=225&w=150&sz=14&tbnid=g_vyrPiu8fYJ:&tbnh=102&tbnw=68&hl=en&start=1&prev=/images%3Fq%3Droan%2Bhorse%26svnum%3D10%26hl%3Den%26lr%3D (Roan horse)%26svnum%3D10%26hl%3Den%26lr%3D (Roan horse)
http://fig.cox.miami.edu/~cmallery/150/mendel/sf10x9.jpg (Dihybrid Cross)http://fig.cox.miami.edu/~cmallery/150/mendel/sf10x9.jpg (Dihybrid Cross)http://images.google.com/imgres?imgurl=http://www.nps.gov/abli/hrs/images/fig3.jpg&imgrefurl=http://www.nps.gov/abli/hrs/http://images.google.com/imgres?imgurl=http://www.nps.gov/abli/hrs/images/fig3.jpg&imgrefurl=http://www.nps.gov/abli/hrs/
hrst.htm&h=299&w=250&sz=10&tbnid=KYz5-pMLQk8J:&tbnh=111&tbnw=92&hl=en&start=17&prev=/images%3Fq%3Dabraham%2Blincolnhrst.htm&h=299&w=250&sz=10&tbnid=KYz5-pMLQk8J:&tbnh=111&tbnw=92&hl=en&start=17&prev=/images%3Fq%3Dabraham%2Blincoln%26svnum%3D10%26hl%3Den%26lr%3D (Lincoln)%26svnum%3D10%26hl%3Den%26lr%3D (Lincoln)
http://images.google.com/imgres?imgurl=http://gslc.genetics.utah.edu/units/basics/blood/images/ABObloodsystem.gif&imgrefurl=http://http://images.google.com/imgres?imgurl=http://gslc.genetics.utah.edu/units/basics/blood/images/ABObloodsystem.gif&imgrefurl=http://gslc.genetics.utah.edu/units/basics/blood/gslc.genetics.utah.edu/units/basics/blood/types.cfm&h=285&w=489&sz=43&tbnid=oByv1TZ9keIJ:&tbnh=74&tbnw=127&hl=en&start=4&prev=/images%3Fq%3Dblood%2Btypestypes.cfm&h=285&w=489&sz=43&tbnid=oByv1TZ9keIJ:&tbnh=74&tbnw=127&hl=en&start=4&prev=/images%3Fq%3Dblood%2Btypes%26svnum%3D10%26hl%3Den%26lr%3D%26sa%3DN (Blood Types)%26svnum%3D10%26hl%3Den%26lr%3D%26sa%3DN (Blood Types)
http://images.google.com/imgres?imgurl=http://www.retinaaustralia.com.au/images/autodom.gif&imgrefurl=http://www.retinaaustralia.com.au/http://images.google.com/imgres?imgurl=http://www.retinaaustralia.com.au/images/autodom.gif&imgrefurl=http://www.retinaaustralia.com.au/RP.htm&h=511&w=565&sz=18&tbnid=65qX-5yyuywJ:&tbnh=118&tbnw=131&hl=en&start=10&prev=/images%3Fq%3Dx-linkedRP.htm&h=511&w=565&sz=18&tbnid=65qX-5yyuywJ:&tbnh=118&tbnw=131&hl=en&start=10&prev=/images%3Fq%3Dx-linked%2Binheritance%26svnum%3D10%26hl%3Den%26lr%3D (x-linked inheritance)%2Binheritance%26svnum%3D10%26hl%3Den%26lr%3D (x-linked inheritance)
http://images.google.com/imgres?imgurl=http://www.theage.com.au/ffximage/2004/03/05/romanovs.jpg&imgrefurl=http://www.theage.com.au/http://images.google.com/imgres?imgurl=http://www.theage.com.au/ffximage/2004/03/05/romanovs.jpg&imgrefurl=http://www.theage.com.au/articles/2004/03/03/1078295443880.html%3Ffromarticles/2004/03/03/1078295443880.html%3Ffrom%3Dstoryrhs&h=220&w=200&sz=15&tbnid=GJ_cftXBebIJ:&tbnh=102&tbnw=92&hl=en&start=1&prev=/images%3Fq%3Dromanovs%26svnum%3Dstoryrhs&h=220&w=200&sz=15&tbnid=GJ_cftXBebIJ:&tbnh=102&tbnw=92&hl=en&start=1&prev=/images%3Fq%3Dromanovs%26svnum%3D10%26hl%3Den%26lr%3D (romanovs)%3D10%26hl%3Den%26lr%3D (romanovs)
http://wappingersschools.org/RCK/staff/teacherhp/johnson/visualvocab/nondisjunction.gif (Nondisjuntion)http://wappingersschools.org/RCK/staff/teacherhp/johnson/visualvocab/nondisjunction.gif (Nondisjuntion)http://medstat.med.utah.edu/block2/biochem/Formosa/Figures/Lecture5/5-02%20Mutations.GIF (Mutations)http://medstat.med.utah.edu/block2/biochem/Formosa/Figures/Lecture5/5-02%20Mutations.GIF (Mutations)http://www.bio.miami.edu/dana/250/sicklecell.jpg (Sickle Cell)http://www.bio.miami.edu/dana/250/sicklecell.jpg (Sickle Cell)http://www.lrc.edu/summeracademy3/sa18/blood_typing_reactions.jpg (Blood Typing)http://www.lrc.edu/summeracademy3/sa18/blood_typing_reactions.jpg (Blood Typing)http://www.genomenewsnetwork.org/articles/2004/05/28/optics.php (Colorblindness Retina)http://www.genomenewsnetwork.org/articles/2004/05/28/optics.php (Colorblindness Retina)http://www.futura-sciences.com/img/y_chromosome.jpg (Y Chromosome)http://www.futura-sciences.com/img/y_chromosome.jpg (Y Chromosome)http://www.hforhealth.com/images/040705/43469_400.jpg (Hemophilia Punnett Square)http://www.hforhealth.com/images/040705/43469_400.jpg (Hemophilia Punnett Square)http://images.google.com/imgres?imgurl=http://www.azer.com/aiweb/categories/magazine/73_folder/73_photos/73_306.jpg&imgrefurl=http://http://images.google.com/imgres?imgurl=http://www.azer.com/aiweb/categories/magazine/73_folder/73_photos/73_306.jpg&imgrefurl=http://
www.azer.com/aiweb/categories/magazine/73_folder/73_articles/www.azer.com/aiweb/categories/magazine/73_folder/73_articles/73_hemophilia.html&h=252&w=149&sz=5&tbnid=FhjIX7MofY0J:&tbnh=106&tbnw=62&hl=en&start=8&prev=/images%3Fq%3Dhemophilia73_hemophilia.html&h=252&w=149&sz=5&tbnid=FhjIX7MofY0J:&tbnh=106&tbnw=62&hl=en&start=8&prev=/images%3Fq%3Dhemophilia%26svnum%3D10%26hl%3Den%26lr%3D (Hemophilia Knee)%26svnum%3D10%26hl%3Den%26lr%3D (Hemophilia Knee)
http://images.google.com/imgres?imgurl=http://www.ikm.jmu.edu/Buttsjl/ISAT493/Hemophilia/QueenVictoria.gif&imgrefurl=http://www.ikm.jmu.edu/http://images.google.com/imgres?imgurl=http://www.ikm.jmu.edu/Buttsjl/ISAT493/Hemophilia/QueenVictoria.gif&imgrefurl=http://www.ikm.jmu.edu/Buttsjl/ISAT493/Hemophilia/Buttsjl/ISAT493/Hemophilia/europeanroyalfamily.html&h=539&w=1119&sz=15&tbnid=304yBRicLzIJ:&tbnh=72&tbnw=150&hl=en&start=7&prev=/images%3Fqeuropeanroyalfamily.html&h=539&w=1119&sz=15&tbnid=304yBRicLzIJ:&tbnh=72&tbnw=150&hl=en&start=7&prev=/images%3Fq%3Dhemophilia%2Bqueen%2Bvictoria%26svnum%3D10%26hl%3Den%26lr%3D (Queen Victoria’s Pedigree)%3Dhemophilia%2Bqueen%2Bvictoria%26svnum%3D10%26hl%3Den%26lr%3D (Queen Victoria’s Pedigree)
http://www.neuro.wustl.edu/neuromuscular/pics/people/patients/beckerl.jpg (DMD Photo)http://www.neuro.wustl.edu/neuromuscular/pics/people/patients/beckerl.jpg (DMD Photo)http://www.hollandsentinel.com/images/112402/Lorenzo.jpg (Lorenzo Odone)http://www.hollandsentinel.com/images/112402/Lorenzo.jpg (Lorenzo Odone)http://www.emc.maricopa.edu/faculty/farabee/BIOBK/barrbody.jpg (Barr Body) http://www.emc.maricopa.edu/faculty/farabee/BIOBK/barrbody.jpg (Barr Body) http://www.mdarchives.state.md.us/msa/mdmanual/01glance/symbols/images/5458-7-038.jpg (Calico Cat)http://www.mdarchives.state.md.us/msa/mdmanual/01glance/symbols/images/5458-7-038.jpg (Calico Cat)
http://carnegieinstitution.org/first_light_case/horn/lessons/images/ (Sickle Cell)http://carnegieinstitution.org/first_light_case/horn/lessons/images/ (Sickle Cell)http://myweb.lsbu.ac.uk/~dirt/museum/margaret/68--252-3041141.jpg (Cystic Fibrosis Chest Scan)http://myweb.lsbu.ac.uk/~dirt/museum/margaret/68--252-3041141.jpg (Cystic Fibrosis Chest Scan)http://www.pamspaulding.com/graphics/taysach.jpg (Tay Sachs Tissue Sample)http://www.pamspaulding.com/graphics/taysach.jpg (Tay Sachs Tissue Sample)http://images.google.com/imgres?imgurl=http://medicalimages.allrefer.com/large/marfans-http://images.google.com/imgres?imgurl=http://medicalimages.allrefer.com/large/marfans-
syndrome.jpg&imgrefurl=http://health.allrefer.com/pictures-images/marfans-syndrome.jpg&imgrefurl=http://health.allrefer.com/pictures-images/marfans-syndrome.html&h=320&w=400&sz=14&tbnid=y2k0kdWMfr8J:&tbnh=96&tbnw=120&hl=en&start=1&prev=/imagessyndrome.html&h=320&w=400&sz=14&tbnid=y2k0kdWMfr8J:&tbnh=96&tbnw=120&hl=en&start=1&prev=/images%3Fq%3Dmarfan%2527s%2Bsyndrome%26svnum%3D10%26hl%3Den%26lr%3D%26ie%3DUTF-8 (Marfan’s %3Fq%3Dmarfan%2527s%2Bsyndrome%26svnum%3D10%26hl%3Den%26lr%3D%26ie%3DUTF-8 (Marfan’s Diagram)Diagram)
www.nlm.nih.gov/.../ ency/esp_imagepages/2927.htm (Pectus Excavatum)www.nlm.nih.gov/.../ ency/esp_imagepages/2927.htm (Pectus Excavatum)www.civilwardads.com/.../ GettysburgAddress.htm (Abraham Lincoln)www.civilwardads.com/.../ GettysburgAddress.htm (Abraham Lincoln)www.biology.iupui.edu/.../ 11nondisjunction.gif (Nondisjunction)www.biology.iupui.edu/.../ 11nondisjunction.gif (Nondisjunction)www.bbc.co.uk/.../ mutations3_rev.shtml (Down’s Syndrome Karyotype)www.bbc.co.uk/.../ mutations3_rev.shtml (Down’s Syndrome Karyotype)bmj.bmjjournals.com/.../ issue7329/twib.shtml (Down’s Syndrome)bmj.bmjjournals.com/.../ issue7329/twib.shtml (Down’s Syndrome)library.thinkquest.org/ 18258/ped-karyo2.htm (Klinefelter’s Karyotype)library.thinkquest.org/ 18258/ped-karyo2.htm (Klinefelter’s Karyotype)www.historyplace.com/.../ portraits/presidents/ (George Washington)www.historyplace.com/.../ portraits/presidents/ (George Washington)www.antenataltesting.info/.../ default.html (Turner’s Syndrome Karyotype)www.antenataltesting.info/.../ default.html (Turner’s Syndrome Karyotype)images.medscape.com/.../ 2002/2155/slide17.gif (Turner’s Syndrome)images.medscape.com/.../ 2002/2155/slide17.gif (Turner’s Syndrome)www.angelfire.com/ or3/edwardssyndrome/ (Edward’s Karyotype)www.angelfire.com/ or3/edwardssyndrome/ (Edward’s Karyotype)livingwithtrisomy13.org/ album11.htm (Patau’s Syndrome)livingwithtrisomy13.org/ album11.htm (Patau’s Syndrome)http://medgen.genetics.utah.edu/photographs/diseases/high/cytog005.jpg (Patau’s Karyotype)http://medgen.genetics.utah.edu/photographs/diseases/high/cytog005.jpg (Patau’s Karyotype)www.paulooi.com/wp-content/ June/DSCN0558.JPG (Polydactyl)www.paulooi.com/wp-content/ June/DSCN0558.JPG (Polydactyl)www.emedicine.com/ ped/topic504.htm (Cri-du-chat karyotype)www.emedicine.com/ ped/topic504.htm (Cri-du-chat karyotype)gslc.genetics.utah.edu/. ../criduchat.cfm (Cri-du-Chat person)gslc.genetics.utah.edu/. ../criduchat.cfm (Cri-du-Chat person)www.ecs.soton.ac.uk/.../ kirk/cory/babyscans.html (Ultra Sound)www.ecs.soton.ac.uk/.../ kirk/cory/babyscans.html (Ultra Sound)www.bbc.co.uk/.../ pregnancyepilepsy_index.shtml (UltraSound)www.bbc.co.uk/.../ pregnancyepilepsy_index.shtml (UltraSound)www.mattwalsh.com/.../ Ultrasound-Sept_17-2.jpg (Ultra Sound Image)www.mattwalsh.com/.../ Ultrasound-Sept_17-2.jpg (Ultra Sound Image)www.ehealthmd.com/.../ AMO_whatis.html (Amniocentesis Diagram)www.ehealthmd.com/.../ AMO_whatis.html (Amniocentesis Diagram)www.nature.com/.../ 050214/full/050214-6.html (Amniocentesis)www.nature.com/.../ 050214/full/050214-6.html (Amniocentesis)www.clevelandclinic.org/ health/health-info/do... (Chorionic Villi Sampling)www.clevelandclinic.org/ health/health-info/do... (Chorionic Villi Sampling)science.howstuffworks.com/ designer-children2.htm (PGD)science.howstuffworks.com/ designer-children2.htm (PGD)www.ivf-infertility.com/ ivf/pgd.php (PGD)www.ivf-infertility.com/ ivf/pgd.php (PGD)evolution.berkeley.edu/.../ IBhuntingtons.shtml (Huntington’s Inheritance)evolution.berkeley.edu/.../ IBhuntingtons.shtml (Huntington’s Inheritance)www.wombwithaview.com (3D ultrasound)www.wombwithaview.com (3D ultrasound)www.sciencecartoonsplus.com (Fish cartoon)www.sciencecartoonsplus.com (Fish cartoon)
