D1S80位点及其他高变区多态性在东欧族群关系分析中的应用

Polymorphisms at locus D1S80 and other hypervariable regions in the analysis of Eastern European ethnic group relationships.

作者信息

Verbenko D A, Slominsky P A, Spitsyn V A, Bebyakova N A, Khusnutdinova E K, Mikulich A I, Tarskaia L A, Sorensen M V, Ivanov V P, Bets L V, Limborska S A

机构信息

Institute of Molecular Genetics, Russian Academy of Sciences, Moscow, Russia.

出版信息

Ann Hum Biol. 2006 Sep-Dec;33(5-6):570-84. doi: 10.1080/03014460601012077.

DOI:10.1080/03014460601012077

PMID:17381055

Abstract

BACKGROUND

It has been hypothesized that, whereas many loci are used to generate phylogenetic relationships, the utilization of those that yield the most information could increase the accuracy of any multilocus phylogenetic reconstruction. Among these is the D1S80 hypervariable minisatellite region, which has been shown to be highly polymorphic globally, and it was of interest to compare the nearest neighbours and distant populations of Eastern Europe using the D1S80 polymorphism.

AIM

The study evaluated the capacity of the D1S80 locus to discriminate between populations from different ethnic groups in Russia and the Republic of Belarus, revealing the polymorphism parameters of the populations studied.

SUBJECTS AND METHODS

Hypervariable D1S80 minisatellite polymorphism was studied in 15 populations, belonging to six distinct ethnic groups from the Russian Federation (Russians, Komis, Maris, Udmurts, Kalmyks, and Yakuts) and the Republic of Belarus (Byelorussians). The data were analysed with other results reported for D1S80 polymorphism among Eastern Europeans, and were analysed together with those previously reported for Eastern European populations for the 3'ApoB, DMPK, DRPLA, and SCA1 hypervariable loci. Genetic diversity analysis was carried out using multidimensional scaling (MDS) of Nei's genetic distances.

RESULTS

The Eastern Slavonic populations (Russians, Ukrainians, and Byelorussians) are closely associated, and outermost from populations of Asian origin (Kalmyks and Yakuts). The populations that inhabit the Volga-Ural region (Udmurt, Komi, Mari, and Bashkir ethnic groups) revealed intermediate characteristics.

CONCLUSION

The clustering of populations demonstrated here using D1S80 alone coincides with the analysis of five hypervariable region (HVR) loci, and is consistent with linguistic, geographic, and ethnohistorical data. These results are in agreement with most studies of mtDNA, Y-chromosomal, and autosomal DNA diversity in Eastern Europe. The D1S80 locus is convenient for population analyses, and may be used as part of a set of similar markers, which should allow the easy resolution of small differences in population structures.

摘要

背景

据推测，尽管许多基因座用于构建系统发育关系，但利用那些能产生最多信息的基因座可提高任何多位点系统发育重建的准确性。其中包括D1S80高变微卫星区域，该区域在全球范围内具有高度多态性，因此利用D1S80多态性比较东欧的近邻群体和远缘群体很有意义。

目的

本研究评估D1S80基因座区分俄罗斯和白俄罗斯共和国不同族群人群的能力，揭示所研究人群的多态性参数。

对象与方法

研究了来自俄罗斯联邦（俄罗斯人、科米人、马里人、乌德穆尔特人、卡尔梅克人、雅库特人）和白俄罗斯共和国（白俄罗斯人）六个不同族群的15个人群的D1S80高变微卫星多态性。将这些数据与此前报道的东欧人D1S80多态性的其他结果进行分析，并与此前报道的东欧人群3'ApoB、DMPK、DRPLA和SCA1高变基因座的数据一起分析。使用基于Nei遗传距离的多维标度法（MDS）进行遗传多样性分析。

结果

东斯拉夫人群（俄罗斯人、乌克兰人和白俄罗斯人）关系密切，与亚洲起源人群（卡尔梅克人和雅库特人）距离最远。居住在伏尔加 - 乌拉尔地区的人群（乌德穆尔特人、科米人、马里人和巴什基尔族群）表现出中间特征。

结论

仅使用D1S80在此处展示的人群聚类结果与对五个高变区（HVR）基因座的分析一致，并且与语言、地理和民族历史数据相符。这些结果与东欧线粒体DNA、Y染色体和常染色体DNA多样性的大多数研究结果一致。D1S80基因座便于进行人群分析，可作为一组类似标记的一部分使用，这应有助于轻松分辨人群结构中的细微差异。