山西骨髓分库4000例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

Research on the gene polymorphisms and haplotypes of HLA-A,B,DRB1 in 4 000 cases of hematopoietic stem cell donors from Shanxi branch of bone marrow

目的分析中国造血干细胞捐献者资料库山西省分库(以下简称山西分库)人群中HLA-A、B、DRB1基因多态性和单倍型的分布特征。方法采用PCR-SSO和SBT基因分型技术对山西分库4 000例无关志愿者做HLA-A、B、DRB1高分辨基因分型,以直接计数法计算等位基因频率,采用最大数学预期值算法、应用Arlequin 3.01软件分析单倍型频率。结果山西分库志愿者HLA抗原频率分布符合Hardy-Weinberg平衡,共检出HLA-A位点等位基因48个,B位点等位基因97个,DRB1位点等位基因52个;A位点频率最高的是A*02∶01(17.8%),B位点频率最高的是B*51∶01(8.3%),DRB1位点频率最高的是DRB1*15∶01(12.6%);频率最高的HLA-A、B、DRB1单倍型是A*30∶01-B*13∶02-DRB1*07∶01(3.1%)。结论分析山西分库志愿者人群HLA基因频率分布,有助于指导临床寻找HLA匹配的无关供者,为HLA与疾病相关研究和中国人群群体遗传学研究等提供了有意义的基础性资料。

Objective To analyze the polymorphism and haplotype of HLA-A,B and DRB1 genes of donors in Shanxi Branch of China Marrow Donor Program（ CMDP）. Methods HLA-A,B and DRB1 genotyping was performed by PCR-SSO and SBT in 4 000 unrelated healthy donors. The allele frequencies were studied by direct counting method,haplotype frequencies were analyzed by maximum mathematical expectation algorithm using Arlequin 3. 01. Results The distribution of HLA antigen frequency in Shanxi Branch conforms to the Hardy-Weinberg equilibrium. In total,48 different HLA-A,97 different HLA-B,52 different HLA-DRB1 were identified. The dominant alleles were A＊ 02∶01（ 17. 8%）,B＊ 51∶01（ 8. 3%）,DRB1＊15∶01（ 12. 6%）. The dominate halpotype was A＊ 30∶01-B＊ 13∶02-DRB1＊ 07∶01（ 3. 1%）. Conclusion The analysis of HLA gene frequency distribution in volunteer donors of Shanxi Branch helps to guide clinical search for HLA matched unrelated donors,and provide basic information for HLA and disease related studies and population genetics of Chinese population.