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白俄罗斯X染色体微卫星在欧洲遗传多样性背景下的变异

Variation of X-chromosomal microsatellites in Belarus within the context of their genetic diversity in Europe.

作者信息

Rębała Krzysztof, Kotova Svetlana A, Rybakova Veranika I, Zabauskaya Tatsiana V, Shyla Alena A, Spivak Alena A, Tsybovsky Iosif S, Szczerkowska Zofia

机构信息

Department of Forensic Medicine, Medical University of Gdansk, Gdansk, Poland.

Scientific and Practical Centre of the State Committee of Forensic Expertises, Minsk, Belarus.

出版信息

Forensic Sci Int Genet. 2015 May;16:105-111. doi: 10.1016/j.fsigen.2014.12.011. Epub 2015 Jan 3.

Abstract

More and more X-STR data are becoming available for worldwide human populations for forensic and anthropological investigations, but the European datasets analysed so far represent mainly the central, northern, western and southern part of the continent with populations of Eastern Europe being practically uninvestigated. In the present study, we assessed genetic variation and linkage disequilibrium of 19 X-chromosomal STR markers (DXS7132, DXS7133, DXS7423, DXS7424, DXS8377, DXS8378, DXS9895, DXS10074, DXS10075, DXS10079, DXS10101, DXS10103, DXS10134, DXS10135, DXS10146, DXS10147, DXS10148, GATA172D05, HPRTB) in four regional populations of an Eastern European state of Belarus, including 12 loci incorporated in the Argus X-12 kit. Our results revealed cumulative power of discrimination of the tested X-STR loci to amount to 0.999999999999996 and 0.999999997 in females and males, respectively. Analysis of molecular variance demonstrated regional stratification within the country, excluding the use of a common X-STR database for Belarus in forensic casework. However, development of a separate X-STR database for the northwestern part of the country or exclusion of four loci displaying regional differences from the dataset were shown to eliminate the observed geographic substructure among Belarusians. Comparison of the Belarusian genotypes with X-STR data from other European populations disclosed a geography-driven northeast-southwest gradient extending from Belarus and Finland to Iberia and Italy. This study is the first extensive report on variation of X-STR markers in populations from Eastern Europe and the first comprehensive analysis of diversity of X-chromosomal microsatellites in Europe.

摘要

越来越多的X染色体短串联重复序列(X-STR)数据可用于全球人类群体的法医和人类学调查,但迄今为止分析的欧洲数据集主要代表了该大陆的中部、北部、西部和南部地区,东欧人口实际上未被研究。在本研究中,我们评估了白俄罗斯这个东欧国家四个地区人群中19个X染色体STR标记(DXS7132、DXS7133、DXS7423、DXS7424、DXS8377、DXS8378、DXS9895、DXS10074、DXS10075、DXS10079、DXS10101、DXS10103、DXS10134、DXS10135、DXS10146、DXS10147、DXS10148、GATA172D05、HPRTB)的遗传变异和连锁不平衡,其中包括Argus X-12试剂盒中的12个位点。我们的结果显示,所测试的X-STR位点在女性和男性中的累积鉴别力分别达到0.999999999999996和0.999999997。分子方差分析表明该国存在区域分层,这排除了在法医案件工作中对白俄罗斯使用通用X-STR数据库的可能性。然而,为该国西北部开发单独的X-STR数据库或从数据集中排除显示区域差异的四个位点,被证明可以消除白俄罗斯人之间观察到的地理亚结构。将白俄罗斯人的基因型与其他欧洲人群的X-STR数据进行比较,发现了一个从白俄罗斯和芬兰延伸到伊比利亚半岛和意大利的由地理驱动的东北-西南梯度。本研究是关于东欧人群中X-STR标记变异的第一份详尽报告,也是欧洲X染色体微卫星多样性的首次全面分析。

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