江苏汉族人群HLA-A、B、DRB1高分辨基因多态性和单体型研究

The high-resolution polymorphism and haplotypes analysis for HLA-A,B,and DRB1 genes of population resided in Jiangsu province of China

目的:分析中国江苏地区汉族人群中造血干细胞捐献志愿者人类白细胞抗原(HLA)-A、B、DRB1在高分辨基因分型水平上的基因多态性和单体型的分布特征。方法:采用聚合酶链反应-序列特异性寡核苷酸探针(PCR-SSOP)基因分型以及基因序列分型(sequence-based typing,SBT)技术,对中国造血干细胞捐献者资料库江苏分库644例无关供者的HLA-A、B、DRB1位点上的等位基因作高分辨分型,直接计数法计算等位基因频率。应用Arlequin 3.01软件,以最大似然法分析单体型频率。结果:在644例无关捐献志愿者中共检出高分辨HLA-A基因29个,HLA-B基因60个,HLA-DRB1基因36个。A位点频率最高的是A*1101(17.86%),B位点频率最高的是B*4601(9.55%),DRB1位点频率最高的是DRB1*0901(15.76%)。频率最高的HLA-A、B、DRB1单体型是A*3001-B*1302-DRB1*0701(5.98%),频率最高的HLA-A、B单体型是A*3001-B*1302(6.68%),频率最高的HLA-B、DRB1单体型是B*1302-DRB1*0701(7.22%),频率最高的HLA-A、DRB1单体型是A*3001-DRB1*0701(6.06%)。结论:本资料从高分辨水平分析了江苏地区汉族人群HLA的分布状况,对指导临床寻找HLA匹配的无关造血干细胞供者、HLA与疾病相关研究和我国人群群体遗传学研究等有重要意义。

Objective：To analyze HLA-A,B and DRB1 alleles high-resolution polymorphism and haplotypes in the Han population in Jiangsu province.Methods：PCR-SSOP and PCR-SBT methods were applied for HLA high-resolution genotyping of 644 unrelated healthy donors in Jiangsu branch of Chinese National Marrow Donor Program（CMDP） registry.The allele frequencies at HLA-A,B,and DRB1 loci were estimated by direct counting method and the haplotype frequencies were estimated using Arlequin software 3.01.Results：A total of 29 alleles for HLA-A,60 alleles for HLA-B,and 36 alleles for HLA-DRB1 were found.The most common alleles were A＊1101（17.86%）,B＊4601（9.55%）and DRB1＊0901（15.76%）.The most common A-B-DRB1 haplotype was A＊3001-B＊1302-DRB1＊0701（5.98%）,the most common A-B haplotype was A＊3001-B＊1302（6.68%）,the most common B-DRB1 haplotype was B＊1302-DRB1＊0701（7.22%）and the most common A-DRB1 haplotype was A＊3001-DRB1＊0701（6.06%）.Conclusion：The high-resolution results show the characteristics of HLA distribution in Jiangsu Han population,and it is helpful in HLA matching in transplantation,as well as to population genetics and disease association studies.