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Patterns and origins of genetic diversity in minority populations (minzu) of the Peoples Republic of China

Bittles, A.H., Wang, W., Black, M.L. and Wise, C. (2003) Patterns and origins of genetic diversity in minority populations (minzu) of the Peoples Republic of China. In: European Human Genetics Conference 2003, 3 - 6 May 2003, Birmingham, U.K.


There are 55 goverment-recognized minority populations in PR China, which collectively account for 10% of the total population. These minorities have existed for 800 to over 4,000 years, and currently range in size from 2,300 to 15.5 million. DNA samples from the majority Han and nine minorities in north, south, west and central China, the Hui, Bai, Kuchong, Maio, Yao, Tibetans, Bo'an, Dongxiang and Salar, were analyzed by biparental markers on chr 13 and 15 and uniparental markers on the Y-chr and mtDNA. The number, size range and frequency of alleles differed by population, with unique alleles detected at autosomal loci in each minority. Deviations from Hardy-Weinberg equilibrium (p<0.05) were present in all populations except the Yao. Heterozygote deficiency also was found in specific populations, especially the Muslim Hui, Bo'an and Salar, with Fis estimates of 0.390, 0.140 and 0.150 reflecting their traditions of community endogamy and consanguineous marriage. On the Y-chr ancient unique event polymorphisms (UEPs) were shared across populations, but the Y-STR results indicated male lineage diversification within a historical time-frame. While virtually all populations shared the common Asian C-T mutation at position 16223 in mtDNA, a T-C mutation at 16234 was present at high frequency only in Tibetans. Phylogenetic analysis clustered the populations into four groups: the Han and Hui, the Bai and Tibetan, the Kuchong, Miao, and Yao, and the Bo'an, Dongxiang, Salar, matching their present-day geographical locations. However, Y-chr STR and SNP analysis suggested language replacement had occurred in the Bo'an, Dongxiang and Kuchong.

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