Abstract for presentation at 11th International Congress of Human Genetics

Comprehensive genomic data have increasingly been used to complement linguistic, archaeological and anthropological evidence in reconstructing the origins and migratory patterns of modern humans. East Asia has been a particular hotspot of human migration, with a large number of human fossils unearthed in PR China where more than 20% of the world’s population now live. Fifty-six officially recognized ethnic populations (minzu) are resident in PR China. The present study investigated the ancestry and genetic diversity of nine of these populations, the majority Han of Liaoning province in northeast China, the Miao, Yao, Kucong and Tibetan communities from Yunnan province in the southwest of the country, and four Muslim populations, the Hui from Liaoning, and the Bonan, Dongxiang and Sala resident in Gansu province, central China. Biparental and uniparental markers were used to study autosomal, mitochondrial and Y-chromosome loci. The molecular data were analysed using a range of statistical techniques based on established population and archaeogenetic approaches, including Bayesian modelling of population stratification. Overall, the data indicated diverse paternal ancestries but restricted maternal ancestries, with the Neolithic population expansion and more recent historical events, such as migration along the Silk Road, inferred from the Y-chromosome STR and SNP data. Various aspects of the internal structure and organisation of the study populations, including sub-community endogamy and consanguinity, were demonstrated by analysis of the autosomal markers. However, interpretive problems were apparent in the definition and composition of a number of the ethnic study populations, which appeared to reflect ‘political’ as well as genetic influences.