Differences in the relative distribution of human gene diversity between electrophoretic and red and white cell antigen loci.

Gene frequency data for 25 loci (2 HLA loci, 9 blood group loci, and 14 electrophoretically detectable loci) were collected from the literature of 18 human populations from all over the world. The data were subjected to a hierarchical gene diversity analysis to provide an estimate of the relative distribution of genetic variation between and within populations and population groups for different types of loci. Two different ways of grouping the populations, i.e., according to anthropological criteria and to a cluster analysis based on gene frequency data, gave essentially the same results. For all loci combined approximately 86% of total gene diversity was found within populations, 3% was associated with differences between populations within groups, and 11% related to group differences. These results are very similar to those obtained in previous studies based on fewer loci and different sets of populations. The distribution of genetic variation is different for different types of loci. The HLA loci give a picture very similar to that of the electrophoretic loci while the blood group loci have a substantially larger fraction of the total gene diversity distributed between populations or population groups.