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简短交流:五个北印度种姓群体中 DRD2 基因座的等位基因和单倍型结构。

Brief communication: Allelic and haplotypic structure at the DRD2 locus among five North Indian caste populations.

机构信息

Biochemical and Molecular Anthropology Laboratory, Department of Anthropology, University of Delhi (North Campus), Delhi 110007, India.

出版信息

Am J Phys Anthropol. 2010 Apr;141(4):651-7. doi: 10.1002/ajpa.21246.

Abstract

The dopamine D2 receptor (DRD2) gene, with its known human-specific derived alleles that can facilitate haplotype reconstruction, presents an important locus for anthropological studies. The three sites (TaqIA, TaqIB, and TaqID) of the DRD2 gene are widely studied in various world populations. However, no work has been previously published on DRD2 gene polymorphisms among North Indian populations. Thus, the present study attempts to understand the genetic structure of North Indian upper caste populations using the allele and haplotype frequencies and distribution patterns of the three TaqI sites of the DRD2 gene. Two hundred forty-six blood samples were collected from five upper caste populations of Himachal Pradesh (Brahmin, Rajput and Jat) and Delhi (Aggarwal and Sindhi), and analysis was performed using standard protocols. All three sites were found to be polymorphic in all five of the studied populations. Uniform allele frequency distribution patterns, low heterozygosity values, the sharing of five common haplotypes, and the absence of two of the eight possible haplotypes observed in this study suggest a genetic proximity among the selected populations. The results also indicate a major genetic contribution from Eurasia to North Indian upper castes, apart from the common genetic unity of Indian populations. The study also demonstrates a greater genetic inflow among North Indian caste populations than is observed among South Indian caste and tribal populations.

摘要

多巴胺 D2 受体(DRD2)基因具有已知的人类特异性衍生等位基因,可促进单倍型重建,是人类学研究的重要基因座。DRD2 基因的三个位点(TaqIA、TaqIB 和 TaqID)在各种世界人群中得到了广泛研究。然而,以前没有关于北印度人群中 DRD2 基因多态性的研究。因此,本研究试图利用 DRD2 基因三个 TaqI 位点的等位基因和单倍型频率和分布模式来了解北印度上层种姓人群的遗传结构。从喜马偕尔邦(婆罗门、拉杰普特和贾特)和德里(阿加瓦尔和信德)的五个上层种姓人群中采集了 246 个血液样本,并使用标准方案进行了分析。在所有研究的五个群体中,所有三个位点均表现出多态性。一致的等位基因频率分布模式、低杂合度值、共享五个常见单倍型以及本研究中未观察到的八个可能单倍型中的两个缺失表明所选群体之间存在遗传亲缘关系。结果还表明,北印度上层种姓除了印度人群的共同遗传统一性外,还受到欧亚大陆的主要遗传贡献。该研究还表明,北印度种姓群体的遗传流入量大于南印度种姓和部落群体。

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