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Introduction to Population Genetics and Deviations from Hardy-Weinberg Equilibrium

This guide provides an overview of modern evolutionary biology and population genetics, focusing on the genetic structure of populations and the Hardy-Weinberg Equilibrium model. It also explores deviations from equilibrium, including mutations, migration, non-random mating, and genetic drift.

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Introduction to Population Genetics and Deviations from Hardy-Weinberg Equilibrium

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  1. Modern Evolutionary Biology I. Population Genetics A. Overview B. The Genetic Structure of a Population C. The Hardy-Weinberg Equilibrium Model 3. Utility: - if a population is NOT in HWE, then one of the assumptions must be violated. Sources of Variation Agents of Change Mutation N.S. Recombination Drift - crossing over Migration - independent assortment Mutation Non-random Mating VARIATION So, if NO AGENTS are acting on a population, then it will be in equilibrium and WON'T change.

  2. Modern Evolutionary Biology I. Population Genetics A. Overview B. The Genetic Structure of a Population C. The Hardy-Weinberg Equilibrium Model D. Deviations from HWE 1. mutation 1. Consider a population with: f(A) = p = 0.6 f(a) = q = 0.4 2. Suppose 'a' mutates to 'A' at a realistic rate of: μ = 1 x 10-5 3. Well, what fraction of alleles will change? 'a' will decline by: qm = .4 x 0.00001 = 0.000004 'A' will increase by the same amount. f(A) = p1 = 0.600004 f(a1) = q = 0.399996

  3. Modern Evolutionary Biology I. Population Genetics A. Overview B. The Genetic Structure of a Population C. The Hardy-Weinberg Equilibrium Model D. Deviations from HWE 1. mutation 2. migration p2 = 0.7 q2 = 0.3 p1 = 0.2 q1 = 0.8 suppose migrants immigrate at a rate such that the new immigrants represent 10% of the new population

  4. Modern Evolutionary Biology I. Population Genetics A. Overview B. The Genetic Structure of a Population C. The Hardy-Weinberg Equilibrium Model D. Deviations from HWE 1. mutation 2. migration p2 = 0.7 q2 = 0.3 p1 = 0.2 q1 = 0.8 M = 10% p(new) = p1(1-m) + p2(m) = 0.2(0.9) + 0.7(0.1) = 0.18 + 0.07 = 0.25

  5. D. Deviations from HWE 1. mutation 2. migration 3. Non-random Mating a. Positive Assortative Mating – “Like mates with Like”

  6. D. Deviations from HWE 1. mutation 2. migration 3. Non-random Mating a. Positive Assortative Mating – “Like mates with Like”

  7. D. Deviations from HWE 1. mutation 2. migration 3. Non-random Mating a. Positive Assortative Mating – “Like mates with Like”

  8. D. Deviations from HWE 1. mutation 2. migration 3. Non-random Mating a. Positive Assortative Mating – “Like mates with Like” b. Inbreeding: Mating with Relatives

  9. D. Deviations from HWE 1. mutation 2. migration 3. Non-random Mating 4. Finite Population Sizes: Genetic Drift The organisms that actually reproduce in a population may not be representative of the genetics structure of the population; they may vary just due to sampling error

  10. D. Deviations from HWE 1. mutation 2. migration 3. Non-random Mating 4. Finite Population Sizes: Genetic Drift 1 - small pops will differ more, just by chance, from the original population

  11. D. Deviations from HWE 1. mutation 2. migration 3. Non-random Mating 4. Finite Population Sizes: Genetic Drift 1 - small pops will differ more, just by chance, from the original population 2 - small pops will vary more from one another than large

  12. D. Deviations from HWE 1. mutation 2. migration 3. Non-random Mating 4. Finite Population Sizes: Genetic Drift - “Founder Effect” The Amish, a very small, close-knit group decended from an initial population of founders, has a high incidence of genetic abnormalities such as polydactyly

  13. - “Founder Effect” and Huntington’s Chorea HC is a neurodegenerative disorder caused by an autosomal lethal dominant allele. The fishing villages around Lake Maracaibo in Venezuela have the highest incidence of Huntington’s Chorea in the world, approaching 50% in some communities.

  14. - “Founder Effect” and Huntington’s Chorea HC is a neurodegenerative disorder caused by an autosomal lethal dominant allele. The fishing villages around Lake Maracaibo in Venezuela have the highest incidence of Huntington’s Chorea in the world, approaching 50% in some communities. The gene was mapped to chromosome 4, and the HC allele was caused by a repeated sequence of over 35 “CAG’s”. Dr. Nancy Wexler found homozygotes in Maracaibo and described it as the first truly dominant human disease (most are incompletely dominant and cause death in the homozygous condition).

  15. - “Founder Effect” and Huntington’s Chorea HC is a neurodegenerative disorder caused by an autosomal lethal dominant allele. The fishing villages around Lake Maracaibo in Venezuela have the highest incidence of Huntington’s Chorea in the world, approaching 50% in some communities. By comparing pedigrees, she traced the incidence to a single woman who lived 200 years ago. When the population was small, she had 10 children who survived and reproduced. Folks with HC now trace their ancestry to this lineage.

  16. - “Genetic Bottleneck” If a population crashes (perhaps as the result of a plague) there will be both selection and drift. There will be selection for those resistant to the disease (and correlated selection for genes close to the genes conferring resistance), but there will also be drift at other loci simply by reducing the size of the breeding population. Cheetah have very low genetic diversity, suggesting a severe bottleneck in the past. They can even exchange skin grafts without rejection… European Bison, hunted to 12 individuals, now number over 1000. Fell to 100’s in the 1800s, now in the 100,000’s

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