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

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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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Authors and Affiliations

  1. Department of Forensic Medicine, School of Medicine, **’an Jiaotong University, **’an, 710061, China

    Feng Chen, Yong-hui Dang, Chun-xia Yan, Yan-ling Liu & Teng Chen

  2. Ministry of Education Key Laboratory of Environment and Genes Related to Diseases, **’an Jiaotong University, **’an, 710061, China

    Chun-xia Yan & Teng Chen

  3. Bei**g Genomics Institute, Chinese Academy of Sciences, Bei**g, 100029, China

    Feng Chen & Ya-jun Deng

  4. Medical College of Georgia, 1459 Laney Walker Blvd, Augusta, Georgia, 30912, USA

    Feng Chen & David J. R. Fulton

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  1. Feng Chen
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  2. Yong-hui Dang
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Correspondence to Teng Chen.

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The two authors contributed to this work equally

Project supported by the Sciences and Technological Fundamental Resources Data of the Ministry of Education, China (No. 505015) and the Key Project for Science and Technology of Shaanxi Province, China (No. 2004K09-G12)

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Chen, F., Dang, Yh., Yan, Cx. et al. Sequence-length variation of mtDNA HVS-I C-stretch in Chinese ethnic groups. J. Zhejiang Univ. Sci. B 10, 711–720 (2009). https://doi.org/10.1631/jzus.B0920140

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