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15 Cards in this Set
- Front
- Back
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difference b/w variability and penetrance
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penetrance: all or none
variability: different degree of sx |
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multile alleles for a gene in a population each with an allelic frequency q above 5%
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polymorphism
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phenotypes determined by multiple factors, both genetic and environmental
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multifactorial traits
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phenotypes determined by multiple genes
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polygenic traits
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single gene controls multiple traits
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pleiotropy
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different alleles inducing independent effects on the phenotype
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codominance
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inheritance pattern of leber hereditary optic neuropathy
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mitochondrial
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inheritance pattern of kearn-sayre syndrome
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mitochondrial
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mutant phenotype that increases in severity each generation
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anticipation
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trinucleoide repeat in fragile x
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CGG
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inheritance pattern of huntington disease
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AD
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inheritance pattern of myotonic muscular dystrophy
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AD
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trinucleotide repeat in fragile x syndrome
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CAG
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trinucleotide repeat in myotonic muscular dystrophy
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CTG
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mutant phenotype with a different phenotype depending on sex
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epigenic imprinting
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