Mitochondrial DNA diversity and population differentiation in southern East Asia

Abstract Mitochondrial DNA (mtDNA) polymorphism has been studied systematically in the Han, Tibeto–Buman, and Hmong–Mien ethnic families of southern East Asia. Only two families in this region, Daic and Austro–Asiatic, were still uninvestigated. Daic is a major ethnic family in South China and Southeast Asia and has a long history. To study mtDNA polymorphism within this family, all the Daic populations of China and some of Vietnam (774 individuals from 30 populations) were typed by HVS‐1 region sequencing and by PCR‐RFLP assays. The observed high Southern type frequencies (B, F, M7, R) confirmed Daic as a typical Southern group. mtDNAs of other populations (126 individuals from 14 populations) from Austro–Asiatic ethnic families neighboring the Daic were also typed. Networks of mtDNA haplogroups in South China were traced from these new data and those from the literature. Ethnic families share many haplogroups, indicating their common origin. However, the two largest families in South China, Daic, and Hmong‐Mien, polarized into several ethnic family specific haplogroups. Haplogroup ages were estimated in the networks of high‐frequency haplogroups (B, F, M7, R), and they were found to originate about 50,000 years ago. In contrast, ethnic family specific haplogroups all originated around 20,000 years ago. We therefore conclude that modern humans have lived in South China for a long time, inside‐ethnogenesis was a rather late event, and frequent inmixing was taking place throughout. MtDNA data of Daic, Austro‐Asiatic and other populations in South China has therefore proven pivotal for studying the human history of East Asia. Am J Phys Anthropol, 2007. © 2007 Wiley‐Liss, Inc.