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目的了解中国新疆维吾尔自治区汉族和维吾尔族人类白细胞抗原DRB1(HLA-DRB1)、HLA-DQB1、HLA-DPB1高分辨分型基础上的基因多态性和单倍型分布的特点。方法应用聚合酶链反应-直接测序基因分型(PCR-SBT)法对新疆地区188例汉族人群与90例维吾尔族人群进行HLA-DRB1、HLA-DQB1、HLA-DPB1基因分型,直接计数法计算基因频率,应用Arlequin3.5软件以最大似然法获得单倍型频率。结果汉族人群频率最高的HLA-Ⅱ类基因分别是DRB1*09∶01(12.8%)、DQB1*03∶01(20.3%)和DPB1*05∶01(33.5%);三位点组成的单倍型频率最高的分别是DRB1*09∶01-DQB1*03∶03(8.8%)、DRB1*09∶01-DPB1*05∶01(5.0%)、DQB1*03∶01-DPB1*05∶01(9.6%)和DRB1*09∶01-DQB1*03∶03-DPB1*05∶01(6.3%)。维吾尔族人群频率最高的HLA-Ⅱ类基因分别是DRB1*07∶01(18.3%)、DQB1*03∶01(18.9%)和DPB1*04∶01(30.0%);三位点组成的单倍型频率最高的分别是DRB1*07∶01-DQB1*02∶02(16.1%)、DRB1*07∶01-DPB1*04∶01(5.0%)、DQB1*03∶01-DPB1*04∶01(7.3%)、DRB1*07∶01-DQB1*02∶02-DPB1*04∶01(7.4%)。两组人群中等位基因有显著差异的是∶DRB1*04∶04、DRB1*07∶01、DRB1*08∶03、DRB1*11∶04、DRB1*12∶02、DRB1*13∶01、DRB1*15∶01、DQB1*02∶02、DQB1*06∶01、DPB1*04∶01和DPB1*05∶01。结论中国新疆汉族与维吾尔族人群HLA-DRB1、HLA-DQB1、HLA-DPB1等位基因频率、单倍型频率分布均有自己的多态性特征。
Objective To understand the gene polymorphism and haplotype distribution of human leukocyte antigen DRB1 (HLA-DRB1), HLA-DQB1 and HLA-DPB1 in Xinjiang Uygur Autonomous Region. Methods The HLA-DRB1, HLA-DQB1 and HLA-DPB1 genotypes were determined in 188 Han and 90 Uighur populations in Xinjiang by PCR-SBT method. The direct counting method Calculate the gene frequency, using Arlequin3.5 software to obtain the haplotype frequency by maximum likelihood. RESULTS: The HLA-Ⅱ genes with the highest frequency in Han population were DRB1 * 09:01 (12.8%), DQB1 * 03:01 (20.3%) and DPB1 * 05:01 (33.5% The highest frequencies were DRB1 * 09:01-DQB1 * 03:03 (8.8%), DRB1 * 09:01 -DPB1 * 05:01 (5.0%), DQB1 * 03:01 -DPB1 * 05:01 9.6%) and DRB1 * 09:01-DQB1 * 03:03-DPB1 * 05:01 (6.3%). The highest frequency of HLA-Ⅱgene in Uighur population was DRB1 * 07:01 (18.3%), DQB1 * 03:01 (18.9%) and DPB1 * 04:01 (30.0%), respectively. The highest frequencies are DRB1 * 07:01 -DQB1 * 02:02 (16.1%), DRB1 * 07:01 -DPB1 * 04:01 (5.0%), DQB1 * 03:01 -DPB1 * 04:01 7.3%), DRB1 * 07:01-DQB1 * 02:02-DPB1 * 04:01 (7.4%). Significant differences between the two groups of alleles are: DRB1 * 04:04, DRB1 * 07:01, DRB1 * 08:03, DRB1 * 11:04, DRB1 * 12:02, DRB1 * 13:01, DRB1 * 15:01, DQB1 * 02:02, DQB1 * 06:01, DPB1 * 04:01 and DPB1 * 05:01. Conclusion The frequencies of HLA-DRB1, HLA-DQB1 and HLA-DPB1 alleles and haplotype frequencies in Han and Uygur nationalities in Xinjiang, China all have their own polymorphism.