中国南北汉族人群HLA-A*02等位基因的分布差异

摘要/Abstract

摘要： 目的研究中国南北汉族人群中HLA-A*02等位基因的分布并比较其差异性。方法采用PCR-SBT方法,对随机抽取的经PCR-SSP方法确认为HLA-A*02阳性的208例南方和129例北方汉族骨髓志愿供者进行序列分型。结果南、北汉族人两个群体中均检出具有不同基因频率的6种A*02等位基因(A*020101、A*0203、A*0205、A*0206、A*0207和A*0210)。南方汉族人中A*0207(37%)为优势等位基因,A*020101(31%)、A*0203(16%)和A*0206(14%)比较常见;而北方汉族人则以A*020101(48%)为优势等位基因,A*0206(21%)和A*0207(23%)比较常见。两个群体中的A*02等位基因总体分布以及A*020101、A*0203和A*0207的相对频率均存在显著性差异。在高、低分辨率两个水平上,南方和北方汉族A*02杂合度分别高于90%和80%,并且低分辨率A*02纯合子在高分辨率水平上表现高度多样性并呈现一定的分布规律。结论 HLA-A*02等位基因在中国南、北汉族人群中的分布呈现高度杂合和遗传多样性并具有显著性差异,HLA-A*020101、A*0203和A*0207可作为人类学研究中区分中国南北汉族人群的遗传标志。

Abstract: Objective To investigate the distributions of HLA-A∗02 alleles in Han populations and compare their difference between the south and north in China.Methods A total of 208 individuals from south China and 109 from north China were randomly selected from registered bone marrow donors in Chinese Han population, who were tested positive for HLA-A*02 alleles by PCR with sequence-specific primers (PCR-SSP). Genotyping of the alleles was performed using PCR-sequence-based typing (PCR-SBT).Results Six different HLA-A∗02 alleles (A∗020101, A∗0203, A∗0205, A∗0206, A∗0207 and A∗0210) were identified in the two Chinese Han populations, of which A∗0207(37%) was the predominant allele in southerners and A∗020101(48%) in the northerners. A∗020101(31%), A∗0203(16%) and A∗0206(14%) were common alleles in the southerners in comparison with ∗#8727;0206(21%) and A∗0207(23%) alleles in the northerners. The overall distribution of A∗02 alleles and the frequencies of A∗020101, A∗0203 and A∗0207 in the two populations differed significantly. The heterozygosity of A∗02 in the southerners and northerners was higher than 90% and 80% at the high- and low-resolution levels, respectively, and the distribution of A∗02 homozygote at low-resolution level in both populations showed diversity and regularity at high-resolution level.Conclusions HLA-A∗02 alleles possess high heterogeneity and genetic diversity in Chinese Han population with significantly different distributions in the two populations. HLA-A∗020101, A∗0203 and A∗0207 may serve as the genetic markers for dividing Chinese Han individuals into southerners and northerners in anthropological studies.

中图分类号:

程良红, 金士正, 高素青, 李桢, 邹红岩, 王大明, 吴国光. 中国南北汉族人群HLA-A*02等位基因的分布差异[J]. 南方医科大学学报, 2005, 25(03): 321-324.

CHENG Liang-hong, JIN Shi-zheng, GAO Su-qing, LI Zhen, ZOU Hong-yan, WANG Da-ming, WU Guo-guang. Difference in HLA-A*02 allele distribution between Han populations in south and north China[J]. Journal of Southern Medical University, 2005, 25(03): 321-324.

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