HSCI 324 Study Guide - Midterm Guide: Single-Nucleotide Polymorphism, Effective Population Size, Coefficient Of Relationship
6 May 2015
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Midterm practice problems: a single nucleotide polymorphism (snp) in the human genome may be associated with a disease you are studying. The mutant allele at this locus is present at a frequency of 3% in your study population. If there is no selection affecting genotype frequencies, then the frequency of the mutant homozygote is predicted to be at hardy-weinberg equilibrium, i. e. , q2 or 0:032 = 0:0009 or 0. 09%: albinism is due to a homozygous recessive allele. Albinos occur in the human population at ~1 in 20,000. Note, this is also why an attempt at eugenics could not eliminate albinos or other such. Undesirable" traits. aa = 1/20,000 = 0. 00005 = q2 a = q = 0. 00707. Aa = 2pq = 2(0. 99293)(0. 00707) = 0. 014 or 1. 4% expected heterozygotes. The most recent common ancestor is always expected to be younger because there can be other earlier ancestors but this common lineage has already been identified with mrca.
