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Sequence-length variation of mtDNA HVS-I C-stretch in Chinese ethnic groups

Journal of Zhejiang University-Science B(Biomedicine & Biotechnology) 2009年第10期10卷 711-720页

作者： Feng CHEN Yong-hui DANG Chun-xia YAN Yan-ling LIU Ya-jun DENG David J. R. FULTON Teng CHEN Department of Forensic Medicine School of Medicine Xi'an Jiaotong University Xi'an 710061 China Ministry of Education Key Laboratory of Environment and Genes Related to D&eases Xi 'an Jiaotong University Xi'an 710061 China Beijing Genomics Institute Chinese Academy of Sciences Beijing 100029 China Medical College of Georgia 1459 Laney Walker Blvd Augusta Georgia 30912 USA

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 ap-proaches. 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, Plength in the C-stretch of HVS-I and a reduction in the number of up-stream 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.

关键词： Mitochondrial DNA (mtDNA) Clone sequencing length heteroplasmy Population genetics

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