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中国藏族人群23个Y染色体短串联重复序列(Y-STR)位点的群体遗传学研究及DYS448无效等位基因的验证

Population genetics for 23 Y-STR loci in Tibetan in China and confirmation of DYS448 null allele.

作者信息

Ye Yi, Gao Jingshang, Fan Guangyao, Liao Linchuan, Hou Yiping

机构信息

Department of Forensic Biology, West China School of Basic Science and Forensic Medicine, Sichuan University, Chengdu 610041, Sichuan, China; Department of Forensic Analytical Toxicology, West China School of Basic Science and Forensic Medicine, Sichuan University, Chengdu 610041, Sichuan, China.

The Center for Material Evidence, Tibet Autonomous Region Public Security, Lhasa 850000, Tibet Autonomous Region, China.

出版信息

Forensic Sci Int Genet. 2015 May;16:e7-e10. doi: 10.1016/j.fsigen.2014.11.018. Epub 2014 Nov 29.

DOI:10.1016/j.fsigen.2014.11.018
PMID:25524635
Abstract

Tibetan is one of 56 ethnic groups in China, where a level of genetic sub-structure might be expected. Although a global analysis of Y-chromosomal haplotype diversity for 23 STR loci and Y-STR databases with PPY23 kit were created with collaborative effort, there was a lack of data for Tibetan population. In this study we evaluated 248 unrelated male individuals of Chinese Tibetan living in the Tibet Autonomous Region to explore the underlying genetic structure of Tibetan populations. These samples were typed for 23 short-tandem repeat (STR) loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385ab, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, GATAH4, DYS481, DYS533, DYS549, DYS570, DYS576, and DYS643) by using PPY23 kit. A total of 224 different haplotypes were found. Haplotype diversity was 0.9990. Both Rst pairwise analyses and multidimensional scaling plot showed the genetic structure of Tibetan population was significantly different from some of Chinese ethnic groups and neighboring populations. There were few interesting null features at DYS448 observed by PPY23 that deserved some comment. It revealed that PPY23 marker set provided substantially stronger discriminatory power in Tibetan population.

摘要

藏族是中国56个民族之一,可能存在一定程度的遗传亚结构。尽管通过合作创建了针对23个STR位点的Y染色体单倍型多样性的全球分析以及使用PPY23试剂盒的Y-STR数据库,但缺乏藏族人群的数据。在本研究中,我们评估了居住在西藏自治区的248名中国藏族无关男性个体,以探索藏族人群潜在的遗传结构。使用PPY23试剂盒对这些样本进行23个短串联重复序列(STR)位点(DYS19、DYS389I、DYS389II、DYS390、DYS391、DYS392、DYS393、DYS385ab、DYS437、DYS438、DYS439、DYS448、DYS456、DYS458、DYS635、GATAH4、DYS481、DYS533、DYS549、DYS570、DYS576和DYS643)的分型。共发现224种不同的单倍型。单倍型多样性为0.9990。Rst成对分析和多维标度图均显示,藏族人群的遗传结构与一些中国民族和邻近人群存在显著差异。PPY23在DYS448处观察到一些有趣的无效特征,值得一提。结果表明,PPY23标记集在藏族人群中具有更强的鉴别能力。

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