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通过使用双等位基因标记、短串联重复序列(STR)和MSY1小卫星构建高信息量的Y染色体单倍型来洞察伊比利亚人群的起源。

Insights into Iberian population origins through the construction of highly informative Y-chromosome haplotypes using biallelic markers, STRs, and the MSY1 minisatellite.

作者信息

Brion M, Salas A, González-Neira A, Lareu M V, Carracedo A

机构信息

Unit of Genetics, Institute of Legal Medicine, University of Santiago de Compostela, E-15782 Santiago de Compostela, Galicia, Spain.

出版信息

Am J Phys Anthropol. 2003 Oct;122(2):147-61. doi: 10.1002/ajpa.10231.

DOI:10.1002/ajpa.10231
PMID:12949835
Abstract

To investigate the diversity of Y chromosomes in the Iberian Peninsula and the North African population of Maghreb, we constructed superhaplotypes on the basis of 10 biallelic markers, 7 microsatellites, and 1 minisatellite located in the nonrecombining portion of the human Y chromosome. The analysis of extremely high MSY1 variability was performed by reducing the MVR-codes to modular structures. Y-STRs and MSY1 data provide information about the relationship between closely related populations such as those of Iberia. Analysis of biallelic markers allowed us to identify 7 of 12 haplogroups defined by those polymorphisms. The haplogroup background showed clear differences between Iberian populations and the North African one. The use of differently mutating Y-chromosome markers allowed us to infer different population events at different time scales: the Paleolithic background of the Iberian Peninsula, the Neolithic fingerprint on Y-chromosome lineages, and the Iron Age influence in the populations of Iberia. Implications of our results for the highly debated origin of Basques are also discussed.

摘要

为了研究伊比利亚半岛和马格里布地区北非人群中Y染色体的多样性,我们基于位于人类Y染色体非重组部分的10个双等位基因标记、7个微卫星和1个小卫星构建了超级单倍型。通过将MVR编码简化为模块化结构,对极高的MSY1变异性进行了分析。Y-STR和MSY1数据提供了有关伊比利亚等密切相关人群之间关系的信息。双等位基因标记分析使我们能够识别出由这些多态性定义的12个单倍群中的7个。单倍群背景在伊比利亚人群和北非人群之间表现出明显差异。使用不同突变的Y染色体标记使我们能够推断出不同时间尺度上的不同群体事件:伊比利亚半岛的旧石器时代背景、Y染色体谱系上的新石器时代印记以及铁器时代对伊比利亚人群的影响。我们还讨论了研究结果对备受争议的巴斯克人起源的影响。

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