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15 Cards in this Set

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