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

作　　者：Feng CHEN Yong-hui DANG Chun-xia YAN Yan-ling LIU Ya-jun DENG David J. R. FULTON Teng CHEN 

机构地区：[1]Department of Forensic Medicine, School of Medicine, Xi'an Jiaotong University, Xi'an 710061, China [2]Ministry of Education Key Laboratory of Environment and Genes Related to D&eases, Xi 'an Jiaotong University, Xi'an 710061, China [3]Beijing Genomics Institute, Chinese Academy of Sciences, Beijing 100029, China [4]Medical College of Georgia, 1459 Laney Walker Blvd, Augusta, Georgia 30912, USA

出　　处：《Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)》2009年第10期711-720,共10页浙江大学学报（英文版）B辑（生物医学与生物技术）

基　　金：supported by the Sciences and Technological Fundamental Resources Data of the Ministry of Education, China (No. 505015);the Key Project for Science and Technology of Shaanxi Province, China (No. 2004K09-G12)

摘　　要：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 ap-proaches. 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 up-stream 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.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.

关 键 词：Mitochondrial DNA （mtDNA） Clone sequencing Length heteroplasmy Population genetics 

分 类 号：Q959.468[生物学—动物学] TV731.6[水利工程—水利水电工程]