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[中国成都100名汉族人群线粒体DNA控制区序列多态性]

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

作者信息

Liang Wei-bo, Lu Mei-li, Jia Yi, Zhou Bin, Liu Kuan-lin, Chen Jing-hui, Liao Miao, Wu Mei-yun, Zhang Lin

机构信息

College of Basic Medicine and Forensic Medicine, Sichuan University, Chengdu, Sichuan, 610041 PR China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Apr;21(2):144-8.

Abstract

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.

摘要

目的

研究成都汉族人群线粒体DNA(mtDNA)控制区的基因多态性。

方法

采用聚合酶链反应(PCR)及直接测序法,对100名无血缘关系的中国汉族个体的mtDNA控制区高变区I和II的序列多态性进行测定。

结果

获得高变区I的404个核苷酸序列和高变区II的379个核苷酸序列。与参考序列相比,高变区I和II分别发现92个和50个可变位点,高变区I和II共确定97种不同的基因模式。高变区I的个体识别概率估计为1.84%,高变区II为1.94%,两个高变区合计为1.18%。

结论

这些结果表明,mtDNA控制区的序列多态性作为个体识别标记在法医学实践中具有重要应用价值。

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