Extent of Heterogeneity in Mitochondrial DNA of Ethnic Asian Populations

Abstract

Variation in the mitochondrial DNA (mtDNA) control region as detected by sequence-specific oligonucleotide (SSO) probes is described for 993 individuals in 11 ethnic Asian populations. Estimates of diversity for mtDNA types exceed 0.94 in all populations, while 53% of the 255 types that were observed occur only once. Of 96 shared types, four occur at frequencies of greater than 10% but less than 17% in any one population. There is statistically significant heterogeneity among these 11 populations, however, an analysis of variance incorporating genetic distances between types shows that at least 95% of the variation present in the total sample is attributable to within-population diversity, while only 5% is due to between-population differences. Overall, heterogeneity with respect to mtDNA SSO types is grossly correlated with geographic distance between populations; the most extreme heterogeneity was observed between populations from East Asia and populations from West Asia. With respect to population genetics, the control region of mtDNA exhibits satisfactory qualities as a DNA typing locus.