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卡塔尔人DNA变异处于人类迁徙的十字路口。

Qatari DNA variation at a crossroad of human migrations.

作者信息

Pérez-Miranda Ana M, Alfonso-Sánchez Miguel A, Peña José A, Herrera Rene J

机构信息

Molecular Biology and Human Diversity Laboratory, Department of Biological Sciences, Florida International University, Miami, FL 33199, USA.

出版信息

Hum Hered. 2006;61(2):67-79. doi: 10.1159/000092648. Epub 2006 Apr 19.

Abstract

Genomic diversity of the Qatari population was investigated by screening 15 autosomal short tandem repeats (STRs). Significant departures from genetic equilibrium were detected at the D13S317, D19S433 and VWA loci, which persisted after applying Bonferroni-type corrections. Gene diversity (GD) values ranged from 0.6851 (TPOX) to 0.8813 (D2S1338), while observed heterozygosity (Ho) oscillated between 0.3388 (D19S433) and 0.8397 (D2S1338). Interestingly, Ho was lower than expected (He) for 14 of the loci analyzed. The information provided by these microsatellite markers was analyzed by means of genetic distances, multidimensional scaling, hierarchical analyses of the molecular variance (AMOVA) and admixture estimations to assess the genetic relationships of Qatar with European, Asian, African and other Middle Eastern populations. The main findings of the study were the genetic uniqueness of the Qatari population, its strong similarity to the United Arab Emirates (UAE) group, a slight genetic differentiation with respect to other Arab populations (Syria and Egypt) and Turkey, and a certain genetic affinity with sub-Saharan African populations. These results are discussed in light of two major issues: the high consanguinity rates characterizing the Qatari population and its strategic geographic position in the Arabian Peninsula close to major migratory routes, an important pivotal contact zone for bidirectional dispersals between Eurasia and Africa.

摘要

通过筛选15个常染色体短串联重复序列(STR)对卡塔尔人群的基因组多样性进行了研究。在D13S317、D19S433和VWA基因座检测到显著偏离遗传平衡的情况,在应用邦费罗尼校正后这种情况仍然存在。基因多样性(GD)值范围为0.6851(TPOX)至0.8813(D2S1338),而观察到的杂合度(Ho)在0.3388(D19S433)和0.8397(D2S1338)之间波动。有趣的是,在所分析的14个基因座中,Ho低于预期值(He)。通过遗传距离、多维标度、分子方差分层分析(AMOVA)和混合估计对这些微卫星标记提供的信息进行分析,以评估卡塔尔与欧洲、亚洲、非洲和其他中东人群的遗传关系。该研究的主要发现是卡塔尔人群的遗传独特性、与阿联酋人群的高度相似性、与其他阿拉伯人群(叙利亚和埃及)以及土耳其的轻微遗传分化,以及与撒哈拉以南非洲人群的一定遗传亲和力。根据两个主要问题对这些结果进行了讨论:卡塔尔人群的高近亲结婚率及其在阿拉伯半岛靠近主要迁徙路线的战略地理位置,这是欧亚大陆和非洲之间双向扩散的重要关键接触区。

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