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Molecular evidence for temporal stratification in Chinese genetic history

Black, M.L., Wise, C., Wang, W. and Bittles, A.H. (2004) Molecular evidence for temporal stratification in Chinese genetic history. In: Genetics and Population Health, 8 - 10 August 2004, Fremantle, Western Australia


The joint application of different molecular marker systems, such as microsatellites, SNPs and mtDNA sequences, in concert with computationally intensive model-based techniques, is allowing the development of an increasingly complex picture of human genetic history. With >1,100 million Han and 55 officially recognized minority populations accounting for another 100+ million people, PR China represents an example of such complexity. For this study, DNA samples from the majority Han, seven official minorities in north, south, west and central China, the Hui, Miao, Yao, Tibetans, Boan, Dongxiang and Salar, and one unofficial minority, the Kuchong, were collected. The samples were analysed with autosomal, Y-chromosome and mtDNA markers that had differing mutation behaviours, and the resultant molecular data then compared with known historical, archaeological and demographic information. Strong evidence for the temporal stratification of human migration in China was established from the molecular data, spanning the first human migrations into East Asia to recent historical migrations along the Silk Road. Data on internal population structure can be added to this evidence using computationally intensive model-based techniques, thus allowing researchers to include the influence of factors such as endogamy when considering the effect of population stratification in future human genetic studies.

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