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Journal of Zhejiang University SCIENCE B 2009 Vol.10 No.10 P.711~720


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

Author(s):  Feng CHEN, Yong-hui DANG, Chun-xia YAN, Yan-ling LIU, Ya-jun DENG, David J. R. FULTON, Teng CHEN

Affiliation(s):  Department of Forensic Medicine, School of Medicine, Xi’ more

Corresponding email(s):   chenteng@mail.xjtu.edu.cn

Key Words:  Mitochondrial DNA (mtDNA), Clone sequencing, Length heteroplasmy, Population genetics

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Feng CHEN, Yong-hui DANG, Chun-xia YAN, Yan-ling LIU, Ya-jun DENG, David J. R. FULTON, Teng CHEN. Sequence-length variation of mtDNA HVS-I C-stretch in Chinese ethnic groups[J]. Journal of Zhejiang University Science B, 2009, 10(10): 711~720.

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author="Feng CHEN, Yong-hui DANG, Chun-xia YAN, Yan-ling LIU, Ya-jun DENG, David J. R. FULTON, Teng CHEN",
journal="Journal of Zhejiang University Science B",
publisher="Zhejiang University Press & Springer",

%0 Journal Article
%T Sequence-length variation of mtDNA HVS-I C-stretch in Chinese ethnic groups
%A Feng CHEN
%A Yong-hui DANG
%A Chun-xia YAN
%A Yan-ling LIU
%A Ya-jun DENG
%A David J. R. FULTON
%A Teng CHEN
%J Journal of Zhejiang University SCIENCE B
%V 10
%N 10
%P 711~720
%@ 1673-1581
%D 2009
%I Zhejiang University Press & Springer
%DOI 10.1631/jzus.B0920140

T1 - Sequence-length variation of mtDNA HVS-I C-stretch in Chinese ethnic groups
A1 - Feng CHEN
A1 - Yong-hui DANG
A1 - Chun-xia YAN
A1 - Yan-ling LIU
A1 - Ya-jun DENG
A1 - David J. R. FULTON
A1 - Teng CHEN
J0 - Journal of Zhejiang University Science B
VL - 10
IS - 10
SP - 711
EP - 720
%@ 1673-1581
Y1 - 2009
PB - Zhejiang University Press & Springer
ER -
DOI - 10.1631/jzus.B0920140

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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