EHJ352H1 Lecture Notes - Lecture 14: Founder Effect, Haplotype, Online Mendelian Inheritance In Man
26 Jan 2013
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Document Summary
People differ in their copy number of genes: different duplicate numbers. If two base pairs are only 50 bp away when it should be 5kb away = deletion. If two base pairs are farther together than it should be = duplication: amount of diversity: Only forces acting on genetic variation and evolution are mutation and genetic drift = no selection. Negative/purifying selection against mutations may act on deleterious mutations but they are strong enough to not affect diversity of evolution. Average pairwise differences: pi (average difference between each pair) Standard neutral model: constant population and random mating. S: number of segregating sites ( all differences can be in one individual) Polymorphism informs us about mutation and ne. Total branch length times mutation rate = polymorphism. As the sample size increases, the number of new segregating sites saturates and plateaus. At a sample size of 12 variance in pi is really low.
