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中国西北伊犁哈萨克自治州汉族人群15个常染色体STR基因座的群体遗传学研究

Population genetics of 15 autosomal STR loci in the Han population of Ili Kazakh Autonomous Prefecture, Northwestern China.

作者信息

Zhao Zhi-Liang, Xia Lu, Zhao Cong, Ameen Fuad, Alyahya Sami, Yao Jun

机构信息

Hospital Office, Chengdu First People's Hospital, Chengdu, Sichuan Province, China.

Department of Anesthesia, Critical Care and Pain Medicine, Massachusetts General Hospital, Harvard Medical School, Charlestown, Massachusetts.

出版信息

Ann Hum Genet. 2019 Sep;83(5):318-324. doi: 10.1111/ahg.12314. Epub 2019 Mar 20.

Abstract

PURPOSE

China harbors 56 ethnic groups and Han accounts for >92% of the total Chinese population. We investigated the frequencies of 15 autosomal short tandem repeat (STR) loci in the Han population of the Ili Kazakh Autonomous Prefecture with the aim of expanding the available population information in human genetics databases and for forensic DNA analysis.

SUBJECTS AND METHODS

We explored the genetic characteristics of 15 autosomal STR loci in 552 unrelated Chinese Han individuals from Ili Kazakh Autonomous Prefecture, Northwestern China using the AmpFISTR Identifiler PCR Amplification Kit. Moreover, phylogenetic analysis was performed between the Han population and other relevant populations based on the autosomal STR genotyping. The neighbor-joining tree and principle component analysis were generated based on the Nei's standard genetic distance and allelic frequencies, respectively.

RESULTS

A total of 171 alleles were observed among 552 unrelated individuals and allelic frequencies ranged from 0.5145 to 0.0009. The combined power of discrimination and combined power of exclusion of the 15 autosomal STR loci were 0.9999999999999999964 and 0.999998243616671, respectively.

CONCLUSIONS

Population comparison revealed that the Ili Han population were lining up together with other Han populations in China while showing significant differences from other Chinese and worldwide populations.

摘要

目的

中国有56个民族,汉族占中国总人口的92%以上。我们调查了伊犁哈萨克自治州汉族人群中15个常染色体短串联重复序列(STR)位点的频率,旨在扩充人类遗传学数据库中的可用人群信息,并用于法医DNA分析。

对象与方法

我们使用AmpFISTR Identifiler PCR扩增试剂盒,对来自中国西北部伊犁哈萨克自治州的552名无血缘关系的汉族个体进行了15个常染色体STR位点的遗传特征研究。此外,基于常染色体STR基因分型,对汉族人群与其他相关人群进行了系统发育分析。分别基于Nei氏标准遗传距离和等位基因频率生成了邻接树和主成分分析。

结果

在552名无血缘关系的个体中共观察到171个等位基因,等位基因频率范围为0.5145至0.0009。15个常染色体STR位点的联合鉴别力和联合排除力分别为0.9999999999999999964和0.999998243616671。

结论

群体比较显示,伊犁汉族人群与中国其他汉族人群聚在一起,同时与其他中国人群和世界人群存在显著差异。

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