通过21个微卫星位点评估圣米格尔岛（亚速尔群岛）人群的遗传特征。

Genetic signature of the São Miguel Island population (Azores) assessed by 21 microsatellite loci.

作者信息

Branco Claudia C, Pacheco Paula R, Cabral Rita, Vicente Astrid M, Mota-Vieira Luisa

机构信息

Molecular Genetics and Pathology Unit, Hospital of Divino Espírito Santo, Ponta Delgada, São Miguel Island, Azores, Portugal.

出版信息

Am J Hum Biol. 2008 Jan-Feb;20(1):118-20. doi: 10.1002/ajhb.20692.

DOI:10.1002/ajhb.20692

PMID:17990326

Abstract

To study the genetic diversity of São Miguel's population we compared 21 microsatellite loci in 204 individuals from São Miguel island and 103 individuals from mainland Portugal. The results show that São Miguel and mainland Portugal populations have an average gene diversity of 0.767 and 0.765, respectively. Allele frequencies of all markers are comparable to other European populations. This observation is corroborated by the genetic relationships analysis based on the NJ tree and principal component, where São Miguel is closely related to mainland Portugal. Overall, the data suggests that São Miguel does not show population structure and is outbred with high genetic diversity. Moreover, the characterization here described is crucial to predict and explain genotypes implicated in genetic diseases in the Azorean population.

摘要

为研究圣米格尔岛人群的遗传多样性，我们比较了来自圣米格尔岛的204名个体和来自葡萄牙大陆的103名个体的21个微卫星位点。结果表明，圣米格尔岛和葡萄牙大陆人群的平均基因多样性分别为0.767和0.765。所有标记的等位基因频率与其他欧洲人群相当。基于NJ树和主成分的遗传关系分析证实了这一观察结果，其中圣米格尔岛与葡萄牙大陆密切相关。总体而言，数据表明圣米格尔岛没有显示出种群结构，并且具有高度遗传多样性的杂交后代。此外，这里描述的特征对于预测和解释亚速尔群岛人群中与遗传疾病相关的基因型至关重要。