基于HLA等位基因频率的全球人群亲缘关系初探-东南大学学报医学版

基于HLA等位基因频率的全球人群亲缘关系初探

单位："发育与疾病相关基因"教育部重点实验室东南大学生命科学研究院, 江苏南京 210096

分类号：R442.8

出版年·卷·期（页码）：2014·33·第四期（429-435）

摘要：

目的：探讨不同实验方法、不同统计方法的HLA配型数据在分析全球人群亲缘关系中的作用和效能，为运用HLA基因的多态性分析全球人群的遗传关系提供理论依据。方法：收集了全球6大洲10个地理分区中的110个人群HLA-A，-B和-DRB1座位的高分辨率配型数据，并对这些等位基因命名进行了归一化处理，用统一的统计方法重新统计了各人群的等位基因频率，用N-J法构建了全球人群的关系树，进而对全球人群间的亲缘关系进行了初步分析。结果：同一地理区域内的人群相互聚类，不同区域间的人群完全分离。关系树不仅能很好地分析局部地区相似人群的异同，也能有效地分析全球各区域人群间的亲缘关系。结论：HLA基因的多态性适合对全球人群的亲缘关系进行研究，也是一种高效的研究人类学的分子标记物。

Objective: To explore whether HLA can be applied to construct phylogenetic trees to analyze affinity of worldwide populations, and provide a reference for further analyzing relationship among populations regionally and globally using HLA allele frequency. Methods: High-resolution typing data for HLA-A,-B and-DRB1 from 112 healthy populations in 10 geographic regions spanning six continents were compiled from published literatures. Primary analyses on affinity of global populations were performed according neighbor-joining trees constructed by allele frequency of HLA. Results: Worldwide populations from the same and different geographic regions were grouped and separated, respectively. Populations within a close geographic region were clustered into a clade. Conclusion: Phylogenetic analysis could clearly classify populations from the six continents, and polymorphism of HLA is a useful tool in anthropological studies.

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