兰州大学生物信息学课件：12-群体遗传学基础和重测序分析-王理中-v3.pptx

群体遗传学基础和重测序分析 ;Population genetics; genetic structure of a population;Population genetics;50 AA;describes a mathematical relationship between allele frequencies and genotype frequencies:;The Hardy-Weinberg Principle Feature 1;;Testing for H-W Equilibrium – Example 1;Population sample;Population sample;Data: 26 MM, 68 MN, 106 NN, with a total population of 200 individuals. 1. Observed genotype frequencies: MM: 26/200 = 0.13 MN: 68/200 = 0.34 NN: 106/200 = 0.53 2. Allele frequencies: M: 0.13 + 1/2 * 0.34 = 0.30 N: 0.53 + 1/2 * 0.34 = 0.70 3. Expected genotype frequencies and numbers: MM: p2 = (0.30)2 = 0.09 (freq) x 200 = 18 MN: 2pq = 2 * 0.3 * 0.7 = 0.42 (freq) * 200 = 84 NN: q2 = (0.70)2 = 0.49 (freq) * 200 = 98 4. Chi-square value: (26 - 18)2 / 18 + (68 - 84)2 / 84 + (106 - 98)2 / 98 = 3.56 + 3.05 + 0.65 = 7.26 5. Conclusion: The critical chi-square value for 1 degree of freedom is 3.841. Since 7.26 is greater than this, we reject the null hypothesis that the population is in Hardy-Weinberg equilibrium. ;Population genetics;ATCGGGTATGCTT ATCGGGGATGCTT ATCGGGTATGCTT ATCGGGGATGCTT ATCGGGGATGCTT ATCGGGTATGCT T;Genetic variations;;Why is genetic variation important?;Why is genetic variation important?;;changes in allele frequencies and/or genotype frequencies through time; mutation migration natural selection genetic drift non-random mating; mutation migration natural selection genetic drift non-random mating; introduces new alleles ;migration; differences in survival or reproduction;Natural selection;;Natural selection;Natural selection;Natural selection;Natural selection;Natural selection can cause populations to diverge;aa – abnormal ? hemoglobin sickle-cell anemia; sampling error;Genetic drift;Genetic drift -- Bottleneck Effect;Genetic drift -- Founder Effect; mutation migration natural selection genetic drift non-random mating; mutation migration natural selection genetic drift non-random mating; Non-random mating