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 Fulton, Teng Chen

Research output: Contribution to journalArticlepeer-review

18 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)711-720
Number of pages10
JournalJournal of Zhejiang University: Science B
Issue number10
StatePublished - 2009


  • Clone sequencing
  • Length heteroplasmy
  • Mitochondrial DNA (mtDNA)
  • Population genetics

ASJC Scopus subject areas

  • General Biochemistry, Genetics and Molecular Biology
  • General Veterinary
  • Pharmacology, Toxicology and Pharmaceutics(all)


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