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阿曼血红蛋白S的遗传流行病学:βS基因的多中心起源

Genetic epidemiology of HbS in Oman: multicentric origin for the betaS gene.

作者信息

Daar S, Hussain H M, Gravell D, Nagel R L, Krishnamoorthy R

机构信息

Department of Hematology, College of Medicine, Sultan Qaboos University, Muscat, Sultanate of Oman.

出版信息

Am J Hematol. 2000 May;64(1):39-46. doi: 10.1002/(sici)1096-8652(200005)64:1<39::aid-ajh7>3.0.co;2-#.

DOI:10.1002/(sici)1096-8652(200005)64:1<39::aid-ajh7>3.0.co;2-#
PMID:10815786
Abstract

On the basis of a sample of 117 chromosomes, we have demonstrated the multicentric origin of the sickle mutation in Northern Oman. Three major haplotypes coexist: 52.1% Benin (typical and atypicals), 26.7% Arab-India, and 21.4% Bantu. These haplotypes are not autochthonous to Oman but originated elsewhere and arrived in Oman by gene flow. The distribution of haplotypes is in excellent agreement with the historical record, which establishes clear ancient contacts between Oman and sub-Sahara west Africa and explains the presence of the Benin haplotype; contacts with Iraq, Iran, present-day Pakistan, and India explain the presence of the Arab-India haplotype. More recent contacts with East Africa (Zanzibar/Mombasa) explain the presence of the Bantu haplotype. The pattern of the Arab-India haplotype in the populations of the Arabian peninsula reinforces the hypothesis that this particular mutation originated in the Harappa culture or in a nearby population and in addition reveals that the Sassanian Empire might have been the vehicle by which this Indo-European sickle mutation migrated (gene flow) to the present-day Arabian peninsula, including Oman.

摘要

基于对117条染色体的样本分析,我们证实了阿曼北部镰状细胞突变的多中心起源。三种主要单倍型共存:52.1%为贝宁型(典型和非典型),26.7%为阿拉伯-印度型,21.4%为班图型。这些单倍型并非阿曼本土所有,而是起源于其他地方并通过基因流动抵达阿曼。单倍型的分布与历史记录高度吻合,历史记录表明阿曼与撒哈拉以南西非地区之间存在明确的古代联系,这解释了贝宁单倍型的存在;与伊拉克、伊朗、当今的巴基斯坦和印度的联系则解释了阿拉伯-印度单倍型的存在。与东非(桑给巴尔/蒙巴萨)更近的联系解释了班图单倍型的存在。阿拉伯-印度单倍型在阿拉伯半岛人群中的分布模式强化了这样一种假说,即这种特定突变起源于哈拉帕文化或附近的人群,此外还揭示了萨珊帝国可能是这种印欧语系镰状细胞突变(基因流动)迁移到包括阿曼在内的当今阿拉伯半岛的媒介。

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