BICD 100 Lecture Notes - Lecture 9: Nonsense Mutation, Wild Type, Haploinsufficiency
Document Summary
Mutation: change in a gene that alters or impairs its function. Wild-type allele: function version of gene found relatively frequent in population. Mutant allele: altered version of a gene with impaired or changed function relative to wildtype. Polymorphism: change in gene that is compatible with normal (wildtype) function. White eyed flies: mutations in white result in white eyes but . If mutation reduce/eliminate white function, then white involved in production of red eyes. If mutations increase white function, then white inhibits the production of red eyes. W alleles reduce further (put over a deletion) If white promotes eye color and wa reduces white function, then adding copies of wa would make phenotype less severe. Wa/df(w)>wa/wa>wa/wa/dp(wa: the more mutated, the less pigmented, the less mutanted, the more pigmented. W^a allele inc the effectiveness of white to inhibit eye color. W alleles are even more efficient in inhibiting eye color.