基于HLA等位基因频率的全球人群亲缘关系初探

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。

Primary analysis on affinity of worldwide populations using allele frequency of HLA

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-DRBI 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.