Center for Research in Natural Resources, and Department of Biology, University of the Azores, Ponta Delgada, Portugal.
Am J Hum Biol. 2010 Mar-Apr;22(2):221-3. doi: 10.1002/ajhb.20971.
The populations from the Azores islands have been the target of several genetic studies, using data derived from monoparental and recombining genetic systems. These studies have provided a complex picture of the genetic landscape of the three groups of Azorean islands, and further data are required to assess its genetic profile. We present a study of the polymorphism in 10 X-chromosome STR loci (DSXS8378, DXS9898, DXS7133, GATA31E08, GATA172D05, DXS7423, DXS6809, DXS7132, DXS9902, DXS6789) conducted on a total of 304 chromosomes (97 females and 110 males) of unrelated individuals with Azorean ancestry. Average gene diversity was 74.47%, ranging from 66.21% (DXS7133) to 81.19% (GATA172D05). No shared haplotypes were found. Genotype frequencies among females displayed conformity with Hardy-Weinberg expectations for all loci. Pairwise linkage disequilibrium tests did not reveal evidences of association between the studied markers. Significant differences in allelic frequencies between the Western and the Eastern group of islands are in agreement with previous results from mitochondrial DNA and Y chromosome studies, providing further evidence that the Azores cannot be considered an homogeneous population. Moreover, differences between the Western group and the North of Portugal are also reported, supporting the pertinence of a specific database for the Azores populations, on what concerns the genetic markers analyzed.
亚速尔群岛的人群一直是几项遗传研究的目标，这些研究使用了来自单亲遗传和重组遗传系统的数据。这些研究提供了亚速尔群岛三组人群遗传景观的复杂图像，需要进一步的数据来评估其遗传特征。我们对来自无亲缘关系的亚速尔群岛个体的 304 条染色体（97 名女性和 110 名男性）进行了 10 个 X 染色体 STR 基因座（DSXS8378、DXS9898、DXS7133、GATA31E08、GATA172D05、DXS7423、DXS6809、DXS7132、DXS9902、DXS6789）的多态性研究。平均基因多样性为 74.47%，范围从 66.21%（DXS7133）到 81.19%（GATA172D05）。没有发现共享单倍型。所有基因座的女性基因型频率均符合 Hardy-Weinberg 预期。连锁不平衡检验没有发现研究标记之间存在关联的证据。西方组和东方组岛屿之间的等位基因频率差异与线粒体 DNA 和 Y 染色体研究的先前结果一致，进一步证明亚速尔群岛不能被视为一个同质人群。此外，还报告了西方组和葡萄牙北部之间的差异，支持了针对亚速尔群岛人群的特定数据库的相关性，就所分析的遗传标记而言。
