CMMB 413 Lecture Notes - Lecture 12: Osteogenesis Imperfecta, Frameshift Mutation, Heterozygote Advantage
30 Apr 2019
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Change in protein that takes it from normal to reduced or no function. Thought to be heterozygote advantage in cholera outbreak in britain in 1800s. Amount of residual activity correlates with clinical severity congenital. Amount of activity left of the protein = severity of phenotype. Males have less problem, females have bigger problem because they would start producing lot of androgen. Simple virilizing: less than 5%, too much testosterone production. Example: protein that don"t shut off when they should. 2 carriers, expect 1/4 normal, 1/2 heterozygous, 1/4 homozygous but not always true. 2 people who have it, homozygous offspring will be embryonic lethal because rib cage would be too still. Dna change that takes a protein and gives it an entirely new function. Sc anemia: rbc change shape under low oxygen conditions. Thought to confer heterozygote advantage because also found in people who live in places where there is malaria.
