中国成都汉族群体线粒体DNA控制区序列多态性研究

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。

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

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.