Mitochondrial DNA polymorphism reveals hidden heterogeneity within some Asian populations

Abstract

Use of data on mtDNA morph distributions from six Asian populations has shown that the observed number of different mtDNA morphs is too large when compared with the number expected on the basis of the observed gene diversity in the mtDNA genome. This excess number of morphs mainly occurs through an excess of rare morphs, and this discrepancy is more pronounced in a pooled sample of five Asian populations. It is suggested that this discrepancy is probably due to internal heterogeneity in each of the anthropologically defined populations. This analysis demonstrates the utility that population data for a single locus, such as the mtDNA genome, have for detecting hidden heterogeneity in populations, provided that the locus has substantial genetic variability, so that many variant alleles can be detected.