| Genetics |
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| Sequence-length variation of mtDNA HVS-I C-stretch in Chinese ethnic groups |
| 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 Diseases, 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 |
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Abstract 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.
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Received: 11 May 2009
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