Sequence-length variation of mtDNA HVS-I C-stretch in Chinese ethnic groups
Sequence-length variation of mtDNA HVS-I C-stretch in Chinese ethnic groups
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DOI：
10.1631/jzus.b0920140
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发表时间：
2009-10-01
影响因子：
5.1
通讯作者：
Chen, Teng
中科院分区：
文献类型：
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作者：
Chen, Feng;Dang, Yong-hui;Chen, Teng
本研究的目的是研究线粒体DNA高变片段I（HVS-I）C-伸展变异及其在法医学和群体遗传学研究中的意义。采用直接测序法和克隆测序法对中国8个民族919名无关个体的C-伸展序列变异进行了研究。共鉴定出38种C-伸展单倍型，并发现了一些新的和群体特异性的单倍型。C段遗传多样性（GD）值相对较高，概率（P）值较低。此外，在大约9%的研究个体中观察到C-伸展长度异质性。HVS-I的C段胞嘧啶序列长度的增加与上游腺嘌呤数目的减少之间存在显著的相关性（r=-0.961，P < 0.01）。这些结果表明，C-延伸可能是一个有用的遗传标记，在中国人群的法医学鉴定。Fst和dA遗传距离矩阵、邻接树和主成分图的结果也表明C-延伸可以作为群体遗传学中一个可靠的遗传标记。
The purpose of this study was to investigate mitochondrial DNA (mtDNA) hypervariable segment-I (HVS-I) C-stretch variations and explore the significance of these variations in forensic and population genetics studies. The C-stretch sequence variation was studied in 919 unrelated individuals from 8 Chinese ethnic groups using both direct and clone sequencing approaches. Thirty eight C-stretch haplotypes were identified, and some novel and population specific haplotypes were also detected. The C-stretch genetic diversity (GD) values were relatively high, and probability (P) values were low. Additionally, C-stretch length heteroplasmy was observed in approximately 9% of individuals studied. There was a significant correlation (r=-0.961, P < 0.01) between the expansion of the cytosine sequence length in the C-stretch of HVS-I and a reduction in the number of upstream adenines. These results indicate that the C-stretch could be a useful genetic maker in forensic identification of Chinese populations. The results from the Fst and dA genetic distance matrix, neighbor-joining tree, and principal component map also suggest that C-stretch could be used as a reliable genetic marker in population genetics.