Single nucleotide polymorphisms of mitochondrial DNA HVS-I and HVS-II in Chinese Bai ethnic group
Single nucleotide polymorphisms of mitochondrial DNA HVS-I and HVS-II in Chinese Bai ethnic group
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中国白族线粒体DNA HVS-I和HVS-II单核苷酸多态性
DOI：
10.1002/elps.201400493
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发表时间：
2015-03-01
期刊：
影响因子：
2.9
通讯作者：
Xu, Peng
中科院分区：
文献类型：
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作者：
Chen, Feng;Yin, Cai-Yong;Xu, Peng
出于法医和群体遗传学目的，从中国白族群体中总共收集了125名无亲缘关系志愿者的血液样本，以分析线粒体DNA控制区两个高变区（HVS - I和HVS - II）的序列变异。将125名中国白族人的HVS - I和HVS - II序列与安德森参考序列进行比较，我们发现中国白族群体线粒体DNA序列的HVS - I中有86个多态位点，HVS - II中有40个多态位点，它们分别定义了93种和53种不同的单倍型。HVS - I的单倍型多样性和平均成对差异分别为0.992±0.003和6.553，HVS - II分别为0.877±0.027和2.407。我们定义了四个主要单倍群R、M、N和D，其比例从9.6%到40.0%不等。通过对HVS - I中16180 - 16193核苷酸的高变区分析，我们的研究揭示了序列变异的新单倍型。此外，Fst度量、系统发育树和主成分分析表明，白族群体与来自中国南方长沙和广东的汉族群体之间存在密切的遗传关系。结果支持白族是一个多起源的少数民族，它与中国汉族群体有融合。
For forensic and population genetic purposes, a total of 125 unrelated volunteers' blood samples were collected from Chinese Bai ethnic minority group to analyze sequence variation of two hypervariable segments (HVS-I and HVS-II) in the mitochondrial DNA control region. Comparing the HVS-I and HVS-II sequences of the 125 Chinese Bais to the Anderson reference sequence, we found 86 polymorphic loci in HVS-I and 40 in HVS-II in mitochondrial DNA sequences of the Chinese Bai ethnic minority group, which defined 93 and 53 different haplotypes, respectively. Haplotype diversity and the mean pairwise differences were 0.992 +/- 0.003 and 6.553 in HVS-I, and 0.877 +/- 0.027 and 2.407 in HVS-II, respectively. We defined fourmacrohaplogroups R, M, N and D with the proportions ranging from 9.6% to 40.0%. With the analysis of the hypervariable domain from nucleotide 16 180-16 193 in HVS-I, our study revealed new haplotypes of sequence variations. In addition, the Fst metric, phylogenetic tree, and principal component analysis demonstrated a close genetic relationship between the Bai group and Chinese Han populations from South China, Changsha, and Guangdong. The results support that the Bai group is a multiorigin ethnic minority that has merged with the Chinese Han population.