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[中国西藏登族人群线粒体DNA高变区I和高变区II区域的序列多态性]

[Sequence polymorphisms of the mitochondrial DNA HVR I and HVR II regions in the Deng populations from Tibet in China].

作者信息

Kang Longli, Zhang Xiaofeng, Liu Kai, Zhao Jianmin

机构信息

Laboratory of Life Science, Key Laboratory of Plateau Environment and Genes Related to Diseases of Tibet, Ministry of Education, Tibet Nationality College, Xianyang Shanxi, 712082 PR China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Dec;26(6):690-5. doi: 10.3760/cma.j.issn.1003-9406.2009.06.018.

Abstract

OBJECTIVE

To analyze the sequence polymorphisms of the mitochondrial DNA hypervariable regions I (HVR I) and HVR II in the Deng population in Linzhi area of Tibet.

METHODS

mtDNAs obtained from 119 unrelated individuals were amplified and directly sequenced.

RESULTS

One hundred and ten variable sites were identified, including nucleotide transitions, transversions, and insertions. In the HVR I region (nt16024-nt16365), 68 polymorphic sites and 119 haplotypes were observed, the genetic diversity was 0.9916. In the HVR II (nt73-nt340) region, 42 polymorphic sites and 113 haplotypes were observed, and the genetic diversity was 0.9907. The random match probability of the HVR I and HVR II regions were 0.0084 and 0.0093, respectively. When combining the HVR I and HVR II regions, 119 different haplotypes were found. The combined match probability of two unrelated persons having the same sequence was 0.0084.

CONCLUSION

There are some unique polymorphic loci in the Deng population. There are different genetic structures between Chinese and other Asian populations in the mitochondrial DNA D-loop region. Sequence polymorphism of mitochondrial DNA HVR I and HVR II can be used as a genetic marker for forensic individual identification and genetic analysis.

摘要

目的

分析西藏林芝地区登族人群线粒体DNA高变区I(HVR I)和高变区II(HVR II)的序列多态性。

方法

对119名无亲缘关系个体的线粒体DNA进行扩增并直接测序。

结果

共鉴定出110个可变位点,包括核苷酸转换、颠换和插入。在HVR I区域(nt16024 - nt16365),观察到68个多态性位点和119种单倍型,遗传多样性为0.9916。在HVR II区域(nt73 - nt340),观察到42个多态性位点和113种单倍型,遗传多样性为0.9907。HVR I和HVR II区域的随机匹配概率分别为0.0084和0.0093。当将HVR I和HVR II区域合并时,发现119种不同的单倍型。两个无亲缘关系个体具有相同序列的合并匹配概率为0.0084。

结论

登族人群存在一些独特的多态性位点。线粒体DNA D环区域中国人群与其他亚洲人群的遗传结构存在差异。线粒体DNA HVR I和HVR II的序列多态性可作为法医个体识别和遗传分析的遗传标记。

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