岳阳市汉族造血干细胞捐献志愿者HLA-DRB1高分辨基因多态性研究

High-resolution Analysis of HLA-DRB1 Genes Among Han Population Bone Marrow Registry Donors in Yueyang

目的检测中华骨髓库湖南分库岳阳市汉族造血干细胞捐献志愿者HLA-DRB1高分辨基因型,了解其基因频率和基因多态性分布特点。方法采用DNA序列测定的分型技术,对1 381名汉族志愿者进行HLA-DRB1高分辨基因分型。结果检出236种HLA-DRB1基因型,主要基因型为0901/0901(4.63%)、0901/0803(4.42%)、0901/1202(4.42%)、0901/1501(4.27%),基因型的分布符合Hardy-Weinberg平衡定律。检出43种HLA-DRB1等位基因,前5位依次为DRB1*0901(19.41%)、DRB1*1501(10.79%)、DRB1*1202(8.98%)、DRB1*0803(7.49%)、DRB1*0405(5.47%),前5位等位基因频率分布与中华骨髓库湖北分库汉族人群比较,差异无统计学意义;与中华骨髓库北方汉族人群比较,差异有统计学意义。结论本资料从高分辨基因分型水平反映了岳阳汉族人群HLA-DRB1的分布情况,对指导HLA-DRB1与疾病的预测和预防、临床寻找HLA匹配的无关造血干细胞捐献者和我国人群群体遗传性研究等有重要意义。

Objective To analyze the gene frequency and polymorphism of HLA-DRB1 gene in Han population bone marrow registry donors of Yueyang.Methods Polymerase chain reaction sequence-based typing（PCR-SBT） method was used to determine HLA-DRB1 genotypes of 1,381 bone marrow registry donors of Yueyang.Results A total of 236 different HLA-DRB1 genotypes and 43 alleles were detected.The main genotypes were 0901/0901（4.63%）,0901/0803（4.42%）,0901/1202（4.42%）,and 0901/1501（4.27%）.The frequencies of top five genes were DRB1＊0901（19.41%）,DRB1＊1501（10.79%）,DRB1＊1202（8.98%）,DRB1＊0803（7.49%）,and DRB1＊0405（5.47%）.The top five genotype frequencies and allele frequency distribution were in accord with Hardy-Weinberg Weinberg Equilibrium.Conclusions The high-resolution genotyping results show the characteristics of HLA-DRB1 distribution in Yueyang Han population,and may be useful for HLA matching in transplantation,as well as for population genetics and disease association studies.