IB35ACS Study Guide

O thrifty genotype 1962 james neel noninsulin

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Unformatted text preview: different blood types don’t mix: A makes the A antigen, B allele makes B antigen, O encodes a defective allele that makes no antigen o Plasma: AB compatible with everything, A&B with O The mutations: o A and B have 7 nucleotide differences (3 silent), O has 1 nucleotide difference with A (Deletion, frameshift mutation) o o ● If neutral variation, could be caused by drift, possibly some disease resistance, outbreak in Africa o O has a much more severe reaction to cholera: ingestion of food contaminated with bacterium Conclusions: o Majority of genetic variation in disease resistance/susceptibility is clinical. ▪ Human migration, disease location and spread o Host- parasite relationships have been, and still are important in shaping allele frequencies of many genes o Founder events tell the nature of the disease and selection pressure o Natural immunity=insights for developing vaccines and cures LECTURE 17- GENETIC TESTING ● Genetics and Medicine o Race based drugs: o Bidil: treats hypertension in African Americans ● Genomics o Francis Collins- TED talk on genomics (didn’t take notes on this) ● Genetic Testing o Testing for breast cancer ▪ She decided to test her self because of huge family history ▪ Had gene and took steps to prevent cancer ▪ Family implications (do they have to be tested now?) o Testing for cystic fibrosis ▪ Parents both carriers, 50- 50 chance of CF child ▪ They decided not to be tested, didn’t want that to interfere with...
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