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sbandzar
on FreezingBlue Flashcards.
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one gene affects long fingers, several organs... which disease and clinical example of and why?
Marfan Syndrome; pleitropic because one gene affects many phenotypic traits
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Mom looks different from kid and grandma. (myotonic dystrophy) or long DNA seq. in Duchenne Muscular dystrophy that can be mutated anywhere along DNA are examples of?
Phenotypic heterogeneity: same mutation with different phenotypes.
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Myosin/actin fibers (different genes) cause single disorder is example of?
Locus heterogeneity
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Genetic heterogeneity?
DMSP: Different Mutation Same Phenotype
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Long gene but 1000 mutations in same loci of gene.
Allelic Heterogeneity: Different mutations on the same loci of gene (Cystic fibrosis)
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Variable expressivity?
Common to Allelic Heterogeneity..means severity of disease depends on mutation
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If two _____geneity mate, their offspring can still be normal?
Locus heterogeneity
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Characteristics of autosomal dominant?
50% chance offspring get disease; male-to-male transmission; generally AA (homozygous) is worse EXCEPT in HUNTINGTON'S
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Examples of gene imprinting?
When one gene is silenced and recieved from parent.
Prader-Willi Syndrom (paternal abnormal chromo) and Angelman Syndrome (maternal abnormal chromo)
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Uniparental Disomy
One parent gives two copies of a gene to you.
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Mosaicism?
When more than two populations of cells with DIFFERENT genotypes are present in body
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Most severe type of muscular dystrophy is caused by in-frame mutation, out-of-frame mutation, N- or C- termini mutation?
Out-of-frame mutation (deletion) --> Duchenne's MD
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Definitive test for measuring dystrinopathy?
DNA testing (gene coding)
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Triple repeat sequence importance?
Worsens after every generation.
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Huntington's disease repeat is ____. Worse if received from mom or dad.
CAG; dad
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Fragile X repeat seq.
CGC
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What is genetic counseling? What is non-directive counseling?
- GC: telling patient about the disease, risk, etc.
- Non-Dir. C. applies
- to aspects of decision-
- making which are not clearly
- decided by scientific data
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Split-hand deformity?
Example of penetrance...bc grandparents and mom/dad didnt have it, but offspring did.
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