Characterization of mitochondrial DNA and Y-chromosome haplotypes in a Uruguayan population of African ancestry.

Abstract

We used a set of informative mtDNA and Y-chromosome-specific markers to determine the origin of maternal and paternal lineages in a sample of 41 Uruguayan black individuals. We found that 20 maternal lineages were African, 13 were Amerindian, and 5 were Caucasian. In three individuals we were unable to determine the ethnic origin of the mtDNA lineages. Of the 22 males analyzed we found 4 Y chromosomes of African origin, 5 of Caucasian origin, and 13 of undetermined ancestry. Our results suggest that mtDNA and Y-chromosome-specific DNA variants may be a useful tool in determining the level of mtDNA and Y chromosome ethnic introgression in a population of a given ethnic origin.