Sequence-length variation of mtDNA HVS-I C-stretch in Chinese ethnic groups.
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.
Chen
Feng
F
Department of Forensic Medicine, School of Medicine, Xi'an Jiaotong University, Xi'an 710061, China.
Dang
Yong-hui
YH
Yan
Chun-xia
CX
Liu
Yan-ling
YL
Deng
Ya-jun
YJ
Fulton
David J R
DJ
Chen
Teng
T
D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002681:China; D017931:DNA Primers / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics*; D014644:Genetic Variation; D005828:Genetics, Population; D006239:Haplotypes; D006801:Humans; D010802:Phylogeny; D025341:Principal Component Analysis
D017931:DNA Primers; D004272:DNA, Mitochondrial