To reveal the genetic structures and relationships of the four ethnic populations from the maternal inheritance and explore the origins and migrations of nationalities, the genetic polymorphism of mtDNA in Dong, Gelao, Tujia, and Yi populations from Guizhou was studied by direct sequencing of hypervariable segment Ⅰ (HVS Ⅰ ) and PCR-RFLP of coding region. Thirty-seven (sub-) haplogroups were identified in the classification tree of mtDNA haplogroups. Haplogroup distributions and principal component (PC) analysis showed that the Dong has high frequencies of south-prevalent haplogroups, which indicates that it is a typically southern population. The Yi harbors high frequencies of the south-prevalent and northern-prevalent haplogroups, which demonstrates that it inherits the maternal characteristics from both southern and northern populations. The Yi and Gelao cluster together, the reason for which might be that their ancestries frequently underwent gene exchanges and mixtures.
旨在研究中国广东省部分地区汉族人群线粒体DNA Region Ⅴ 9bp序列缺失情况。采用PCR-PAGE和直接测序法对3个群体144份样本mtDNA Region Ⅴ进行序列分析。结果只检测到标准型和短型(即9bp缺失)两种多态。广东汉族人群的平均缺失频率为21.5%,广州、东莞和湛江汉族人群的缺失频率依次为20.8%、19.2%和25.0%。由此得出,广东汉族人群mtDNA9bp缺失频率较高,与其它地区汉族群体存在一定的差异。