title: Genetic relationship of Chinese ethnic populations revealed by mtDNA sequence diversity.
abstract: The origin and demographic history of the ethnic populations of China have not been clearly resolved. In this study, we examined the hypervariable segment I sequences (HVSI) of the mitochondrial DNA control region in 372 individuals from nine Chinese populations and one northern Thai population. A relatively high percentage of individuals was found to share sequences with those from other populations of the same ethnogenesis. In general, the populations of southern or Pai-Yuei tribal origin showed high haplotype diversity and nucleotide diversity compared with the populations of northern or Di-Qiang tribal origin. Mismatch distributions from these populations showed concordant features. All except the northern groups Nu, Lisu, Tibetan, and Mongolian showed typical signatures of ancient population expansions in the mismatch distributions and neutrality tests. Episodes of extreme size reduction in the past are one of the likely explanations for the absence of evidence of expansion in northern populations. Small sample sizes as well as samples from isolated subpopulations contributed to the bumpy mismatch distributions observed. Phylogenetic analysis and haplotype sharing among populations suggest that current mtDNA variation in these ethnic populations could reveal their ethnohistory to some extent, but in general, linguistic and geographic classifications of the populations did not agree well with classification by mtDNA variation.
authors.affiliation: Laboratory of Molecular Evolution and Genome Diversity, Kunming Institute of Zoology, Chinese Academy of Sciences, 650223, People's Republic of China.
authors.forename: Yong-Gang
authors.initials: YG
authors.lastname: Yao
authors.forename: Long
authors.initials: L
authors.lastname: Nie
authors.forename: Henry
authors.initials: H
authors.lastname: Harpending
authors.forename: Yun-Xin
authors.initials: YX
authors.lastname: Fu
authors.forename: Zhi-Gang
authors.initials: ZG
authors.lastname: Yuan
authors.forename: Ya-Ping
authors.initials: YP
authors.lastname: Zhang
mesh_terms: D000328:Adult; D001483:Base Sequence; D002681:China / Q000208:ethnology; D004272:DNA, Mitochondrial / Q000235:genetics*; D005006:Ethnicity; D005260:Female; D014644:Genetic Variation; D005843:Geography; D006239:Haplotypes; D006801:Humans; D008037:Linguistics; D008297:Male; D008969:Molecular Sequence Data; D010802:Phylogeny; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D013785:Thailand / Q000208:ethnology
chemical_list: D004272:DNA, Mitochondrial