Lecture 9

Population – group of interbreeding individuals of the same species that are occupying a given area at a given time. Population genetics is the study of the allele frequency distribution and change under the influence of the 4 evolutionary forces: natural selection, mutation, migration (gene flow), and genetic drift. Population genetics is concerned with gene and genotype frequencies, the factors that tend to keep them constant, and the factors that tend to change them in populations. All the genes at all loci in every member of an interbreeding population form gene pool. Each gene in the genetic pool is present in two (or more) forms – alleles. Individuals of a population have same number and kinds of genes (except sex genes) and they have different combinations of alleles (phenotypic variation). The applications of Mendelian genetics, chromosomal abnormalities, and multifactorial inheritance to medical practice are quite evident. Physicians work mostly with patients and families. However, as important as they may be, genes affect populations, and in the long run their effects in populations have a far more important impact on medicine than the relatively few families each physician may serve. Why is population genetics important for human health and diseases? (a) Human evolution has been underlain by adaptive and non-adaptive changes in gene frequencies (b) Diseases are due to effects of alleles interacting with environments is a spectrum from singlelocus disorders to polygenic disorders