中国汉族人群的线粒体DNA控制区多态性研究

Polymorphism study of the mitochondrial DNA control region in Chinese Han population group

探讨mtDNA多态性在法庭科学中个体识别的理论基础。应用PCR扩增产物直接测序方法 ,对 111名中国北方地区汉族人群无血缘关系个体的mtDNA控制区 (HVⅠ和HVⅡ )进行测序分析。在高变区Ⅰ 15 998～ 16 40 0之间发现 10 2处碱基变异 ,10 3个mtDNA单倍型 ;在高变区Ⅱ 0 0 0 35～ 0 0 36 9之间的发现 36处碱基变异 ,6 9个mtDNA单倍型。其可变碱基的变异形式主要为碱基替代 (转换和颠换 )、插入和缺失 ;碱基转换 (78 9% )明显高于颠换(14 3% )、插入 (3 4% ) ,缺失 (3 4% )。分析表明 ,人群个体mtDNA控制区碱基序列 ,基因多样性为 99 9% ,两个无关个体的偶合概率为 0 92 % 。

The aim of the present study is to provide a basis of mtDNA application in forensic medicine practice. The mitochondrial DNA(mtDNA)control region (HVⅠand HVⅡ) from 111 unrelated individuals of Han population in China were amplified and directly sequenced. The results demonstrated that there were 103 mtDNA haplotypes caused by 102 variations in HVⅠ(15998-16400),while 69 mtDNA haplotypes caused by 36 variations in HVⅡ(00035-00369). Sequence variations were caused by nucleotide substitution(transition and transversion),insertions, or deletions. The majority of the mutations were the nucleotide substitution.The frequencies of transition were the highest (78 9%),while the transversion(14 3%)were low, whereas insertions(3 4%)and deletions(3 4%)were the lowest.The polymorphism estimated was 99 9%. The probability of match was 0 92%.