Biochemistry 4463G Chapter Notes - Chapter 9: Genotype Frequency, Allele Frequency, Population Genetics

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Population genetics: quantitative study of the distribution of genetic variation in populations and of how the frequencies of genes are maintained, or changed over time (within and between populations) On the basis of observed genotype frequencies, the allele frequency can be determined by simply counting the alleles. To calculate the observed frequency of a specific allele: example: ccr5 is a receptor-encoding gene for the wild-type form. A deletion mutation results in the ccr5 gene which renders the receptor non-functional. Applies to all autosomal loci and to the x chromosome in females, but not to x-linked loci in males who have a single x chromosome. If allele frequencies do not change over subsequent generations (i. e. if p and q remain constant), the proportion of all the genotypes within the population will remain constant. 2pq can be calculated to obtain an estimate of pku heterozygotes in the population.

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