这研究的目的是调查 mitochondrial DNA (mtDNA ) hypervariable 片断 -- 我(HVS-I )C 段变化并且探索这些变化的意义在法庭并且人口遗传研究。C 段顺序变化从 8 个中国种族组在 919 个无关的个人被学习用指导并且克隆定序途径。三十八 C 段 haplotypes 被识别,并且特定的 haplotypes 也是的某小说和人口检测了。C 段基因差异(GD ) 价值相对高,并且概率(P) 价值是低的。另外, C 段长度 heteroplasmy 在学习的约 9% 个人被观察。有重要关联(r=? 0.961, P < 0.01 ) 在在在在上游的腺嘌的数字的 HVS-I 和减小的 C 段的 cytosine 顺序长度的扩大之间。这些结果显示 C 段能是在中国人口的法庭的鉴定的一个有用基因制造者。从基因距离矩阵,加入邻居的树,和主要部件印射的 Fst 和 dA 的结果也建议 C 段能在人口遗传被用作一个可靠基因标记。
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.