DNA Markers and Genetic Variation in the Human Species

Abstract

The first attempt at using genetic markers for anthropological purposes goes back to 1918, when Hirszfeld and Hirszfeld (1918–1919) showed that ABO blood groups varied with the ethnic origin of population samples. Using ABO, MN, and Rh blood group data, Boyd (1950) showed one could assign some populations to their ethnic group of origin. Only rarely is an individual locus sufficiently informative that conclusions about ethnic origins can be drawn. Nevertheless, evolutionary theory predicts that by accumulating information from many genes one may be able to reconstruct the evolutionary history of a group of populations. With this in mind, Cavalli-Sforza and Edwards (1964) attempted to reconstruct a tree of descent of human ethnic groups using five loci for which information was then available for 15 populations. A new method specifically designed for reconstruction of phylogenies and a classical statistical method of reduction of dimensions (the analysis of principal components) both...