Genetic Variation and Evolution of Human Populations

Abstract

Abstract Genetic variation within and between populations provides important information on the evolutionary history of the populations. To obtain a reliable picture of the evolutionary history, however, one must use gene frequency data from a large number of loci because gene frequency changes are known to be subject to large stochastic errors. Yet, experimentalists often use data from a single locus or a small number of loci. This is particularly so when DNA polymorphism data are used. For example, Wainscoat et al. (1986) constructed a phylogenetic tree for human populations using a DNA region that involves a part of the β-globin gene cluster. Phylogenetic trees from mitochondrial DNA are also often used for inferring the evolutionary history of human populations (Cann et al., 1987; Vigilant et al., 1989), though mtDNA is inherited as a single genetic entity and therefore is equivalent to a single genetic locus.