Y-chromosome Haplogroup C Lineages and Implications for Population History of Korea

摘要

We analyzed Y-chromosome variation for identification of haplogroup C lineages (RPS4Y7ntransition) in 680 males from eleven ethnic groups in east Asia to study the male lineage history of Korea. The haplogroup C lineages were further typed with the M217 binary marker to define the lineage C3, together with six Y-STR markers for evaluation of population diversity. Our result is consistent with previous reports that the lineages C3 were common in northeast Asia (especially, Mongolia), while these M217-derived lineages were absent in haplogroup C lineages seen in most southeast Asia, except for the Yunnan-Han and Vietnamese populations. The moderate frequency of haplogroup C3 lineages(14.9%) and their high genetic diversity of Y-STR haplotypes (>0.99)in Korea imply population diversification and deep population depth, as well as a genetic influence from northern populations of east Asia. The occurrence of high frequencies of the M217 sublineages and their low genetic diversities in Siberia might be not only a result of the influence of genetic drift and founder effect, but also diversification resulting from the prehistoric northward migration of the haplogroup C lineages.