中国成都汉族群体线粒体DNA控制区序列多态性研究  

Sequence polymorphisms of the mitochondrial DNA control region in 100 Chengdu Hans in China

作　　者：梁伟波[1] 吕梅励[1] 贾怡[1] 周斌[1] 刘宽林 陈京辉 廖淼[1] 吴梅筠[1] 张林[1] 

机构地区：[1]四川大学基础医学与法医学院物证教研室,教育部人类疾病生物治疗重点实验室,成都610041 [2]成都市交警大队事故科 [3]广东省汕尾市公安局刑警大队

出　　处：《中华医学遗传学杂志》2004年第2期144-148,共5页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金 (30 1 71 0 33);教育部重点项目(0 1 1 4 3);四川省杰出青年基金 (2 0 0 1 - 2 )~~

摘　　要：目的　检测并分析中国成都汉族群体线粒体 DNA控制区多态性 ,为法医学应用提供基础数据。方法　应用 PCR扩增和直接测序方法检测 10 0个不相关中国成都汉族群体线粒体 DNA控制区中高变区 、 的序列多态性。结果　检测高变区 中 4 0 4个核苷酸和高变区 中 379个核苷酸的序列 ,在 区和 区分别检测到 92和 5 0个变异点 ,与 Anderson标准序列比较 ,共检测到 97种单倍型。偶合概率分别为1.84 %与 1.94 % ,两者合并后为 1.18%。结论　提示线粒体 DNA控制区 DNA序列多态性在法医学领域中具有较高的应用价值。Objective To study the genetic polymorphisms of the mitochondrial DNA (mtDNA) control region in Chengdu Han population. Methods Sequence polymorphisms of the mtDNA control region, hypervariable regions Ⅰ and Ⅱ from 100 unrelated Chinese Hans were determined by PCR and direct sequencing. Results Sequences of 404 nucleotides for hypervariable region Ⅰ and 379 nucleotides for region Ⅱ were obtained. Ninety-two and fifty variable sites were revealed in region Ⅰ and region Ⅱ respectively as compared to the reference sequence, and a total of 97 different genetic patterns from both the regions Ⅰ and Ⅱ were determined. The probability of identity was estimated at 1.84% for region Ⅰ, 1 94% for region Ⅱ, and 1 18% for both the regions. Conclusion These results suggest that sequence polymorphism of mtDNA control region would be very useful in forensic practice as a marker for individual identification.

关 键 词：中国汉族 线粒体 DNA 控制区 序列多态性 

分 类 号：R394[医药卫生—医学遗传学]