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Unformatted text preview: Autosomal dominant inheritance o Affected individuals are BB or Bb o Males and females are equally affected and either may transmit the trait = no sex differences o Affected phenotype does not skip generation. Affected children have (at least one) affected parent(s) o Unaffected parents have unaffected children Excepta new mutation; Pedigree: An Autosomal Dominant Trait The first thing you do with a pedigree is to count males and females Example: Marfan syndrome phenotype affects the skeletal system, cardiovascular system, and (near-sighted) eyes. Basketball and volleyball players have long legs and its found in those athletes. o Frequency 1 in 10,000 o 25% of the cases are new mutations Example: Huntington Disease o Frequency 1 in 10,000 o Gene Chromosome 4 o Protein Huntington o Phenotype affects the nerves to twitch, late onset disorder o Hh x hh o No treatment and no cure...
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- Spring '10
- Mutation, Autosomal Dominant Inheritance, autosomal dominant trait, large gene Identified