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西班牙北部(巴斯克地区和坎塔布里亚)的遗传多样性:与人口历史相关的GM和KM变异

Genetic diversity in northern Spain (Basque Country and Cantabria): GM and KM variation related to demographic histories.

作者信息

Esteban E, Dugoujon J M, Guitard E, Sénégas M T, Manzano C, de la Rúa C, Valveny N, Moral P

机构信息

Departament de Biologia Animal, Facultat de Biologia, Universitat de Barcelona, Spain.

出版信息

Eur J Hum Genet. 1998 Jul-Aug;6(4):315-24. doi: 10.1038/sj.ejhg.5200186.

Abstract

Genetic diversity in Northern Spain (SW Europe) was assessed through the analysis of the GM and KM immunoglobulin markers in 505 individuals using a set of 17 allotypes, including the G2M(23) allotype which has been infrequently used before now. The individuals were representative of three anthropologically well-defined populations belonging to two geographically and archaeologically distinct areas in the Basque Country (Guipúzcoa and Alava provinces) and to the mountainous region of Montes de Pas in the province of Cantabria. Gene frequency distributions indicated a high genetic divergence between Montes de Pas and the Basque Country, and a relative degree of heterogeneity between the two Basque regions. The genetic differentiation of Montes de Pas, which is consistent with previous classical polymorphism analyses, suggests a considerable genetic variation range within the Iberian Peninsula, possibly higher than that often polarised around the Basque versus non-Basque variation. Analyses of genetic structure show that the major differentiation of Montes de Pas could be related to the historically documented mixed origin of this population. The moderate genetic distances between regions in the Spanish Basque Country could be explained by differential systematic pressures acting through a stronger gene flow in the South than in the more isolated Northern areas. The comparisons with neighbouring populations from the French Pyrenees suggest that the present genetic variation revealed by lg polymorphisms in SW Europe can be related to historical demographic processes including gene flow and/or low population sizes.

摘要

通过对505名个体的GM和KM免疫球蛋白标记进行分析,利用一组17种同种异型,包括此前较少使用的G2M(23)同种异型,评估了西班牙北部(欧洲西南部)的遗传多样性。这些个体代表了三个在人类学上定义明确的群体,分别属于巴斯克地区两个地理和考古上不同的区域(吉普斯夸省和阿拉瓦省)以及坎塔布里亚省的蒙特斯德帕斯山区。基因频率分布表明,蒙特斯德帕斯与巴斯克地区之间存在高度遗传差异,且两个巴斯克地区之间存在相对程度的异质性。蒙特斯德帕斯的遗传分化与之前的经典多态性分析一致,表明伊比利亚半岛内存在相当大的遗传变异范围,可能高于通常围绕巴斯克与非巴斯克变异两极分化的范围。遗传结构分析表明,蒙特斯德帕斯的主要分化可能与其历史记载的混合起源有关。西班牙巴斯克地区各区域之间适度的遗传距离可以通过不同的系统压力来解释,即南部比更孤立的北部地区有更强的基因流动。与法国比利牛斯山脉相邻群体的比较表明,欧洲西南部lg多态性揭示的当前遗传变异可能与包括基因流动和/或低种群规模在内的历史人口过程有关。

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