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Y染色体单倍群R-M269内近期的辐射导致了高度的Y-STR单倍型相似性。

Recent radiation within Y-chromosomal haplogroup R-M269 resulted in high Y-STR haplotype resemblance.

作者信息

Larmuseau Maarten H D, Vanderheyden Nancy, Van Geystelen Anneleen, van Oven Mannis, de Knijff Peter, Decorte Ronny

机构信息

Laboratory of Forensic Genetics and Molecular Archaeology, UZ Leuven, Leuven, Belgium; Department of Imaging & Pathology, Biomedical Forensic Sciences, KU Leuven, Leuven, Belgium; Laboratory of Biodiversity and Evolutionary Genomics, Department of Biology, KU Leuven, Leuven, Belgium.

出版信息

Ann Hum Genet. 2014 Mar;78(2):92-103. doi: 10.1111/ahg.12050.

Abstract

Y-chromosomal short tandem repeats (Y-STRs) are often used in addition to Y-chromosomal single-nucleotide polymorphisms (Y-SNP) to detect subtle patterns in a population genetic structure. There are, however, indications for Y-STR haplotype resemblance across different subhaplogroups within haplogroup R1b1b2 (R-M269) which may lead to erosion in the observation of the population genetic pattern. Hence the question arises whether Y-STR haplotypes are still informative beyond high-resolution Y-SNP genotyping for population genetic studies. To address this question, we genotyped the Y chromosomes of more than 1000 males originating from the West-European regions of Flanders (Belgium), North-Brabant and Limburg (the Netherlands) at the highest resolution of the current Y-SNP tree together with 38 commonly used Y-STRs. We observed high resemblance of Y-STR haplotypes between males belonging to different subhaplogroups of haplogroup R-M269. Several subhaplogroups within R-M269 could not be distinguished from each other based on differences in Y-STR haplotype variation. The most likely hypothesis to explain this similarity of Y-STR haplotypes within the population of R-M269 members is a recent radiation where various subhaplogroups originated within a relatively short time period. We conclude that high-resolution Y-SNP typing rather than Y-STR typing might be more useful to study population genetic patterns in (Western) Europe.

摘要

除了Y染色体单核苷酸多态性(Y-SNP)外,Y染色体短串联重复序列(Y-STR)也经常被用于检测群体遗传结构中的细微模式。然而,有迹象表明,在单倍群R1b1b2(R-M269)内的不同亚单倍群之间,Y-STR单倍型存在相似性,这可能会导致群体遗传模式观察结果的模糊。因此,对于群体遗传学研究而言,除了高分辨率的Y-SNP基因分型外,Y-STR单倍型是否仍然具有信息价值,这一问题由此产生。为了解决这个问题,我们以当前Y-SNP树的最高分辨率,对来自佛兰德(比利时)、北布拉班特和林堡(荷兰)等西欧地区的1000多名男性的Y染色体进行了基因分型,并同时检测了38个常用的Y-STR。我们观察到,属于R-M269单倍群不同亚单倍群的男性之间,Y-STR单倍型具有高度相似性。基于Y-STR单倍型变异的差异,R-M269内的几个亚单倍群无法相互区分。解释R-M269成员群体中Y-STR单倍型这种相似性的最可能假设是,最近的一次辐射导致各个亚单倍群在相对较短的时间内产生。我们得出结论,对于研究(西欧)的群体遗传模式而言,高分辨率的Y-SNP分型可能比Y-STR分型更有用。

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