Micro-phylogeographic and demographic history of Portuguese male lineages

Micro-phylogeographic and demographic history of Portuguese male lineages
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DOI:
10.1111/j.1529-8817.2005.00221.x
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发表时间:
2006-03-01
影响因子:
1.9
通讯作者:
Amorim, A
Amorim, A
中科院分区:
生物学4区
文献类型:
--
作者:
Beleza, S;Gusmao, L;Amorim, A

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在欧洲观察到的Y染色体谱系分布的克隆模式并不总是在较小的地理范围内反映出来。对来自葡萄牙18个行政区的663名男性样本进行了25个Y染色体双等位基因和15个微卫星标记的分型,以评估男性谱系分布的亚结构程度。在Y-SNP和Y-STR水平上的单倍群频率分布、分子方差分析(AMOVA)和遗传距离分析表明葡萄牙亚群总体上具有遗传同质性。在解决葡萄牙遗传变异分布问题的研究中,通常被认为是国家北部、中部和南部的传统划分,并没有反映在Y单倍型分布中。相反,只有一个亚区域(阿伦特霍)脱颖而出,因为存在着高多样性水平和更多不同的谱系,频率高于其他区域。这些结果与现有的历史证据相一致,假设从史前时代到中世纪末期,该地区拥有最多样化的人口群体,并且由于经济衰退,与最近的同质化运动保持相对孤立。葡萄牙人背景大同小异的发现在法医、流行病学和关联性研究中产生了巨大的影响。
The clinal pattern observed for the distribution of Y-chromosome lineages in Europe is not always reflected at a geographically smaller scale. Six hundred and sixty-three male samples from the 18 administrative districts of Portugal were typed for 25 Y-chromosome biallelic and 15 microsatellite markers, in order to assess the degree of substructuring of male lineage distribution. Haplogroup frequency distributions, Analysis of Molecular Variance AMOVA) and genetic distance analyses at both Y-SNP and Y-STR levels revealed a general genetic homogeneity of Portuguese sub-populations. The traditional division of the country in north, central and south, which is usually considered in studies addressing questions of the genetic variation distribution in Portugal, was not reflected in the Y-haplotype distribution. Instead, just one sub-region (Alentejo) stood out due to the presence of high diversity levels and a higher number of different lineages, at higher frequencies than in other regions. These results are reconciled with the historical evidence available, assuming that from prehistorical times down to the end of the medieval period this region harboured the most diverse groups of people and, because of economic depression, remained relatively isolated from recent homogenisation movements. The finding of a broadly homogeneous background for the Portuguese population has vast repercussions in forensic, epidemiological and association studies.