江苏骨髓分库汉族造血干细胞捐献志愿者HLA-A、B、DRB1基因多态性和单倍型研究

目的分析中国造血干细胞捐献者资料库(简称江苏分库)汉族人群中HLA-A,B,DRB1基因多态性和单倍型的分布特征。方法用PCR-SSP和PCR-SSOP基因分型技术对江苏分库20 248名无关志愿者作HLA-A、B、DRB1低分辨基因分型,以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倍型频率。结果江苏分库汉族志愿者HLA抗原频率分布符合Hardy-Weinberg平衡;共检出HLA-A位点等位基因18个,B位点等位基因34个,DRB1位点等位基因13个;A位点频率最高的是A*02(29.6%),B位点频率最高的是B*15(14.4%),DRB1位点频率最高的是DRB1*09(16.2%);频率最高的HLA-A,-B,-DRB1单倍型是A*30-B*13-DRB1*07(6.92%),频率最高的HLA-A、B单倍型是A*30-B*13(8.04%),频率最高的HLA-B,DRB1单倍型是B*13-DRB1*07(8.07%),频率最高的HLA-A、DRB1单倍型是A*02-DRB1*09(7.70%)。结论对江苏分库汉族人群HLA的分布状况的了解,有助于指导临床寻找HLA匹配的无关骨髓供者,为HLA与疾病相关研究和我国人群群体遗传学研究等提供了有意义的基础性资料。

The polymorphism and haplotype analysis of HLA-A, B and DRB1 gene of 20248 donors in CMDP Jiangsu Branch

Objective To investigate the polymorphism and haplotype of HLA-A,B and DRB1 genes of 20 248 unrelated healthy donors in Jiangsu Branch of Chinese National Marrow Donor Program(CMDP).Methods HLA genotyping was performed by PCR-SSP and PCR-SSOP.The allele and haplotype frequencies of HLA-A,B and DRB1 were also studied.Results In total,18 different HLA-A,34 different HLA-B,and 13 different HLA-DRB1 alleles were identified.The dominant alleles were A*02(29.6%) at locus A,B*15(14.4%) at locus B,and DRB1*09(16.2%) at locus DRB1.The dominant haplotypes were A*30-B*13-DRB1*07(6.92%) for A-B-DRB1 loci,A*30-B*13(8.04%) for A-B loci,B*13-DRB1*07(8.07%) for B-DRB1 loci,and the A*02-DRB1*09(7.70%) for A-DRB1 loci.Some strong LD haplotypes were detected in both popular and rare haplotypes.Conclusion The findings above could provide basic information in population genetics and anthropology studies of Chinese Han population.It also serves as the foundation for future selection of Jiangsu stem cell donors.