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 journalArticle

12 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)711-720
Number of pages10
JournalJournal of Zhejiang University: Science B
Volume10
Issue number10
DOIs
StatePublished - Oct 19 2009

Fingerprint

Population Genetics
nationalities and ethnic groups
Mitochondrial DNA
Ethnic Groups
Haplotypes
population genetics
haplotypes
adenines
mitochondrial DNA
Forensic Genetics
cytosine
Cytosine
Adenine
Genetic Markers
Joining
Population
genetic distance
Clone Cells
clones
genetic variation

Keywords

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

ASJC Scopus subject areas

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

Cite this

Sequence-length variation of mtDNA HVS-I C-stretch in Chinese ethnic groups. / Chen, Feng; Dang, Yong Hui; Yan, Chun Xia; Liu, Yan Ling; Deng, Ya Jun; Fulton, David J; Chen, Teng.

In: Journal of Zhejiang University: Science B, Vol. 10, No. 10, 19.10.2009, p. 711-720.

Research output: Contribution to journalArticle

Chen, Feng ; Dang, Yong Hui ; Yan, Chun Xia ; Liu, Yan Ling ; Deng, Ya Jun ; Fulton, David J ; Chen, Teng. / Sequence-length variation of mtDNA HVS-I C-stretch in Chinese ethnic groups. In: Journal of Zhejiang University: Science B. 2009 ; Vol. 10, No. 10. pp. 711-720.
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