应用序列特异性寡核苷酸探针反向斑点杂交技术对内蒙古地区蒙古族106名无关健康个体的HLA-A、B和DRB1 基因座进行基因分型, 以研究内蒙古地区蒙古族人群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。 采用最大数学预期值算法计算HLA基因座的等位基因频率和单倍型频率。106 名内蒙古地区蒙古族个体的HLA-A、B、DRB1基因座分别检出13、29、13个等位基因。高频单倍型分别为 HLA-A*02-B*46 (0.0510); HLA-A*02-B*13(0.0495); HLA-A*02-B*51(0.0442); HLA-B*13-DRB1*07 (0.0555); HLA- B*46-DRB1*09(0.0378); HLA-B*35-DRB1*13(0.03300); HLA-A*02-B*13-DRB1*07(0.033019); HLA-A*02-B*46- DRB1*09(0.031985)。研究表明: 内蒙古地区蒙古族人群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*24-B*14, HLA-A*32-B*63在该民族具有极强的连锁不平衡。

We investigated the genetic polymorphisms of HLA-A, B, DRB1 alleles and haplotype frequencies in Mongols from Inner Mongolia, China. A PCR-based reverse line-strip sequence specific oligonucleotide hybridization method was used to determine the alleles of HLA-A, B, DRB1 in 106 unrelated, healthy Mongol individuals of Inner Mongolia. Allelic and haplotype frequencies of these loci were calculated by the maximum likelihood estimator method. Altogether, 13 HLA-A alleles, 29 HLA-B alleles and 13 HLA-DRB1 alleles were observed in the population. The most frequent HLA A-B, B-DRB1, and A-B-DRB1 haplotypes were HLA-A*02-B*46 (0.0510), HLA-A*02-B*13 (0.0495), HLA-A*02-B*51 (0.0442); HLA-B*13-DRB1*07(0.0555), HLA B*46-DRB1*09 (0.0378), HLA-B*35-DRB1*13(0.033); and HLA-A*02-B*13- DRB1*07(0.033019), HLA-A*02-B*46-DRB1*09 (0.031985), respectively. These results indicated that the HLA loci are highly polymorphic in Mongols of Inner Mongolia, and haplotypes HLA-A*24-B*14, HLA-A*32-B*63 have significant linkage disequilibrium.