宁夏回族HLA-A,B,DRB1基因座遗传多态性和单倍型分析

HLA-A, B, and DRB1 genes and haplotype polymorphisms in Hui nationality group of Ningxia Hui autonomous region in China

目的:研究宁夏回族自治区地区回族人群HLA-A,B,DRB1基因座的等位基因及其组成的单倍型频率分布特征.方法:采集宁夏回族122名无关健康个体静脉血,应用聚合酶链反应-序列特异性引物方法对其HLA-A,B和DRB1基因座进行基因分型.直接计数法统计基因频率,采用最大数学预期值算法计算HLA单体型频率.结果:122名宁夏回族个体的HLA-A,B,DRB1基因座分别检出14,29,13个等位基因.高频等位基因分别为HLA-A*02;HLA-A*11;HLA-A*24;HLA-A*03,HLA-B*35;HLA-B*46;HLA-B*13;HLA-B*51,HLA-DRB1*15;HLA-DRB1*09;HLA-DRB1*07;HLA-DRB1*12.高频单倍型分别为HLA-A*02-B*46;HLA-A*11-B*60;HLA-A*02-B*51;HLA-B*46-DRB1*09;HLA-B*13-DRB1*07;HLA-B*58-DRB1*17;HLA-A*02-B*46-DRB1*09;HLA-A*02-B*58-DRB1*17;HLA-A*02-B*13-DRB1*12.结论:宁夏回族自治区回族人群HLA基因座的等位基因和单倍型具有较高的遗传多态性.HLA-A*01-B*37,HLA-A*30-B*13,HLA-A*02-B*50,HLA-B*31-DRB1*10在该民族具有极强的连锁不平衡.

AIM： To investigate the genetic polymorphisms of HLA-A, B, DRB1 alleles and haplotype frequencies in Hui nationality group from the Ningxia Hui autonomous region in China. METHODS： A PCR-based sequence specific primers method was used to determine the alleles of HLA-A, B, DRB1 in 122 unrelated, healthy Hui nationality individuals of Ningxia. Allelic frequencies were calculated by the direct count and haplotype frequencies were calculated by the maximum likelihood estimator method. RESULTS： Fourteen HLA-A alleles, 29 HLA-B alleles and 13 HLA-DRB1 alleles were observed in the population. The most frequent alleles were HLA-A ＊ 02, HLA-A ＊ 11, HLA-A ＊ 24, HLA-A ＊ 03, HLA-B ＊ 35, HLA-B ＊ 46, HLA-B ＊ 13, HLA-B .51, HLA- DRB1 ＊ 15, HLA-DRB1 ＊09, HLA- DRB1 ＊ 07, HLA-DRB1 ＊ 12. The most frequent HLA A-B, B-DRB1, and A-B-DRB1 haplotypes were HLA-A ＊ 02-B ＊ 46, HLA-A ＊ ll-B＊60, HLA-A＊O2-B .51, HLA-B ＊46-DRB1 ＊09, HLA-B ＊ 13-DRB1 ＊ 07, HLA-B ＊ 58-DRB1 ＊ 17, HLA-A ＊ 02-B ＊ 46- DRB1 ＊ 09. HLA-A ＊ 02-B ＊ 58-DRB1 ＊ 17, HLA-A ＊ 02-B ＊13-DRB1 ＊ 12, respectively. CONCLUSION： The HLA loci are highly polymorphic in Hui nationality population from Ningxia, and haplotypes HLA-A ＊ O1-B ＊ 37, HLA-A ＊ 30-B ＊ 13, HLA-A ＊ 02- B ＊ 50, HLA-B ＊ 31-DRB1 ＊ 10 have significant linkage disequilibrium.