title: Sequence-length variation of mtDNA HVS-I C-stretch in Chinese ethnic groups.
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.
authors.affiliation: Department of Forensic Medicine, School of Medicine, Xi'an Jiaotong University, Xi'an 710061, China.
authors.forename: Feng
authors.initials: F
authors.lastname: Chen
authors.forename: Yong-hui
authors.initials: YH
authors.lastname: Dang
authors.forename: Chun-xia
authors.initials: CX
authors.lastname: Yan
authors.forename: Yan-ling
authors.initials: YL
authors.lastname: Liu
authors.forename: Ya-jun
authors.initials: YJ
authors.lastname: Deng
authors.forename: David J R
authors.initials: DJ
authors.lastname: Fulton
authors.forename: Teng
authors.initials: T
authors.lastname: Chen
mesh_terms: 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
chemical_list: D017931:DNA Primers; D004272:DNA, Mitochondrial