pedigrees. spinal muscular atrophy severe muscle weakness from birth loss of motor neurons in the...
Post on 20-Dec-2015
219 views
TRANSCRIPT
![Page 1: Pedigrees. Spinal Muscular Atrophy Severe muscle weakness from birth Loss of motor neurons in the spinal cord](https://reader035.vdocuments.site/reader035/viewer/2022062421/56649d4a5503460f94a279a4/html5/thumbnails/1.jpg)
PedigreesPedigrees
![Page 2: Pedigrees. Spinal Muscular Atrophy Severe muscle weakness from birth Loss of motor neurons in the spinal cord](https://reader035.vdocuments.site/reader035/viewer/2022062421/56649d4a5503460f94a279a4/html5/thumbnails/2.jpg)
Spinal Muscular AtrophySpinal Muscular Atrophy
Severe muscle weakness from birthSevere muscle weakness from birth Loss of motor neurons in the spinal cordLoss of motor neurons in the spinal cord
![Page 3: Pedigrees. Spinal Muscular Atrophy Severe muscle weakness from birth Loss of motor neurons in the spinal cord](https://reader035.vdocuments.site/reader035/viewer/2022062421/56649d4a5503460f94a279a4/html5/thumbnails/3.jpg)
Evaluating Mode of InheritanceEvaluating Mode of Inheritance
Autosomal Dominant?
![Page 4: Pedigrees. Spinal Muscular Atrophy Severe muscle weakness from birth Loss of motor neurons in the spinal cord](https://reader035.vdocuments.site/reader035/viewer/2022062421/56649d4a5503460f94a279a4/html5/thumbnails/4.jpg)
Evaluating Mode of InheritanceEvaluating Mode of Inheritance
Autosomal Recessive?
![Page 5: Pedigrees. Spinal Muscular Atrophy Severe muscle weakness from birth Loss of motor neurons in the spinal cord](https://reader035.vdocuments.site/reader035/viewer/2022062421/56649d4a5503460f94a279a4/html5/thumbnails/5.jpg)
Fred’s PedigreeFred’s Pedigree
![Page 6: Pedigrees. Spinal Muscular Atrophy Severe muscle weakness from birth Loss of motor neurons in the spinal cord](https://reader035.vdocuments.site/reader035/viewer/2022062421/56649d4a5503460f94a279a4/html5/thumbnails/6.jpg)
Get to Know Your ClassmateGet to Know Your Classmate
Pair up (preferably) with Pair up (preferably) with someone you do not knowsomeone you do not know
Pick a trait or disease found in Pick a trait or disease found in your family or you partner’s your family or you partner’s familyfamily
Draw a pedigree depicting the Draw a pedigree depicting the inheritance of the trait/diseaseinheritance of the trait/disease
Try to determine the mode of Try to determine the mode of inheritanceinheritance
![Page 7: Pedigrees. Spinal Muscular Atrophy Severe muscle weakness from birth Loss of motor neurons in the spinal cord](https://reader035.vdocuments.site/reader035/viewer/2022062421/56649d4a5503460f94a279a4/html5/thumbnails/7.jpg)
DadMom
Vicki Johnny
Elizabeth Mildred BobJoe
Zoey Savannah Jasmine
ElizabethJeffreyJerryJimmyJoey Doug Stuart
DAM Roger Billy
Marion NormBlondeness in Professor Morrissette’s Family
![Page 8: Pedigrees. Spinal Muscular Atrophy Severe muscle weakness from birth Loss of motor neurons in the spinal cord](https://reader035.vdocuments.site/reader035/viewer/2022062421/56649d4a5503460f94a279a4/html5/thumbnails/8.jpg)
Variations to Mendel’s Variations to Mendel’s LawsLaws
Extensions and ExceptionsExtensions and Exceptions
![Page 9: Pedigrees. Spinal Muscular Atrophy Severe muscle weakness from birth Loss of motor neurons in the spinal cord](https://reader035.vdocuments.site/reader035/viewer/2022062421/56649d4a5503460f94a279a4/html5/thumbnails/9.jpg)
Alterations to Mendel’s RatiosAlterations to Mendel’s Ratios
In these cases, genotypic ratio is as Mendel In these cases, genotypic ratio is as Mendel predicted but phenotypic ratio is alteredpredicted but phenotypic ratio is altered Lethal allele combinationsLethal allele combinations Multiple allelesMultiple alleles Different dominance relationshipsDifferent dominance relationships EpistasisEpistasis Penetrance and expressivityPenetrance and expressivity PleiotropyPleiotropy Genetic heterogeneityGenetic heterogeneity PhenocopiesPhenocopies
![Page 10: Pedigrees. Spinal Muscular Atrophy Severe muscle weakness from birth Loss of motor neurons in the spinal cord](https://reader035.vdocuments.site/reader035/viewer/2022062421/56649d4a5503460f94a279a4/html5/thumbnails/10.jpg)
Lethal Allele CombinationsLethal Allele Combinations
![Page 11: Pedigrees. Spinal Muscular Atrophy Severe muscle weakness from birth Loss of motor neurons in the spinal cord](https://reader035.vdocuments.site/reader035/viewer/2022062421/56649d4a5503460f94a279a4/html5/thumbnails/11.jpg)
Multiple AllelesMultiple Alleles
Give a range of phenotypesGive a range of phenotypes Each of us has 2 alleles for any given Each of us has 2 alleles for any given
genegene 1 from mom and 1 from dad1 from mom and 1 from dad
There can be many different alleles for a There can be many different alleles for a genegene Different alleles are formed by mutationsDifferent alleles are formed by mutations
![Page 12: Pedigrees. Spinal Muscular Atrophy Severe muscle weakness from birth Loss of motor neurons in the spinal cord](https://reader035.vdocuments.site/reader035/viewer/2022062421/56649d4a5503460f94a279a4/html5/thumbnails/12.jpg)
Example of Multiple Alleles -PKUExample of Multiple Alleles -PKU
Phenylketonuria (PKU)Phenylketonuria (PKU) Enzyme that breaks down phenylalanine is deficientEnzyme that breaks down phenylalanine is deficient
• Phenylalanine accumulatesPhenylalanine accumulates There are hundreds of possible allelesThere are hundreds of possible alleles Allelic combinations give rise to different phenotypesAllelic combinations give rise to different phenotypes
• Severe mental retardationSevere mental retardation• Moderate PKUModerate PKU• Mild PKUMild PKU• Asymptomatic PKUAsymptomatic PKU
![Page 13: Pedigrees. Spinal Muscular Atrophy Severe muscle weakness from birth Loss of motor neurons in the spinal cord](https://reader035.vdocuments.site/reader035/viewer/2022062421/56649d4a5503460f94a279a4/html5/thumbnails/13.jpg)
Different Dominance Relationship –Different Dominance Relationship –Incomplete dominanceIncomplete dominance
The heterozygous The heterozygous phenotype is phenotype is intermediate between intermediate between the homozygous the homozygous dominant and the dominant and the homozygous homozygous recessiverecessive
Blended phenotypeBlended phenotype
![Page 14: Pedigrees. Spinal Muscular Atrophy Severe muscle weakness from birth Loss of motor neurons in the spinal cord](https://reader035.vdocuments.site/reader035/viewer/2022062421/56649d4a5503460f94a279a4/html5/thumbnails/14.jpg)
Different Dominance Relationship –Different Dominance Relationship –codominancecodominance
Phenotypes of both Phenotypes of both alleles are expressedalleles are expressed
![Page 15: Pedigrees. Spinal Muscular Atrophy Severe muscle weakness from birth Loss of motor neurons in the spinal cord](https://reader035.vdocuments.site/reader035/viewer/2022062421/56649d4a5503460f94a279a4/html5/thumbnails/15.jpg)
Codominance –Blood TypeCodominance –Blood Type
![Page 16: Pedigrees. Spinal Muscular Atrophy Severe muscle weakness from birth Loss of motor neurons in the spinal cord](https://reader035.vdocuments.site/reader035/viewer/2022062421/56649d4a5503460f94a279a4/html5/thumbnails/16.jpg)
Codominance –Blood TypeCodominance –Blood Type
![Page 17: Pedigrees. Spinal Muscular Atrophy Severe muscle weakness from birth Loss of motor neurons in the spinal cord](https://reader035.vdocuments.site/reader035/viewer/2022062421/56649d4a5503460f94a279a4/html5/thumbnails/17.jpg)
EpistasisEpistasis
One gene affects the expression of One gene affects the expression of anotheranother Example: If a dog has the hairless gene, the Example: If a dog has the hairless gene, the
genes that affect hair color will not be genes that affect hair color will not be expressedexpressed
![Page 18: Pedigrees. Spinal Muscular Atrophy Severe muscle weakness from birth Loss of motor neurons in the spinal cord](https://reader035.vdocuments.site/reader035/viewer/2022062421/56649d4a5503460f94a279a4/html5/thumbnails/18.jpg)
Penetrance and ExpressivityPenetrance and Expressivity Describe degrees of inheritanceDescribe degrees of inheritance Due to multifactorial inheritanceDue to multifactorial inheritance
Expression of a gene is influenced by other genes Expression of a gene is influenced by other genes and by environmentand by environment
Penetrance =all-or-none expression of a genePenetrance =all-or-none expression of a gene 100% of the people who inherit mutant amyloid 100% of the people who inherit mutant amyloid
precursor protein (mAPP) develop Alzheimer disease precursor protein (mAPP) develop Alzheimer disease so mAPP is 100% penetrantso mAPP is 100% penetrant
Expressivity =severity of gene expressionExpressivity =severity of gene expression Polydactyly has variable expressivityPolydactyly has variable expressivity
• Some have an extra toe and others have an extra toe and an Some have an extra toe and others have an extra toe and an extra finger.extra finger.
![Page 19: Pedigrees. Spinal Muscular Atrophy Severe muscle weakness from birth Loss of motor neurons in the spinal cord](https://reader035.vdocuments.site/reader035/viewer/2022062421/56649d4a5503460f94a279a4/html5/thumbnails/19.jpg)
PleiotropyPleiotropy
Gene affects several functionsGene affects several functions Phenotype is variedPhenotype is varied
Example: Porphyria variegataExample: Porphyria variegata
![Page 20: Pedigrees. Spinal Muscular Atrophy Severe muscle weakness from birth Loss of motor neurons in the spinal cord](https://reader035.vdocuments.site/reader035/viewer/2022062421/56649d4a5503460f94a279a4/html5/thumbnails/20.jpg)
Genetic HeterogeneityGenetic Heterogeneity
Different genes produce the same phenotypeDifferent genes produce the same phenotype Example:Example:
Hearing loss may be due to one of 132 different Hearing loss may be due to one of 132 different genes that follow autosomal recessive inheritancegenes that follow autosomal recessive inheritance
B, b =gene for hearing loss type 1B, b =gene for hearing loss type 1R, r =gene for hearing loss type 2R, r =gene for hearing loss type 2
BBrr bbRR
BbRr
deaf deaf
NOT deaf
![Page 21: Pedigrees. Spinal Muscular Atrophy Severe muscle weakness from birth Loss of motor neurons in the spinal cord](https://reader035.vdocuments.site/reader035/viewer/2022062421/56649d4a5503460f94a279a4/html5/thumbnails/21.jpg)
PhenocopyPhenocopy
An environmentally caused trait that An environmentally caused trait that appears to be inheritedappears to be inherited
Example: Phocomelia is a rare genetic Example: Phocomelia is a rare genetic disorder whose effects are mimicked by disorder whose effects are mimicked by the teratogen, thalidomidethe teratogen, thalidomide
Example: AIDs transmission from mother Example: AIDs transmission from mother to offspringto offspring