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中文摘要：
目的：分析青海土族人群人类白细胞抗原（Human leukocyte antigen,HLA）A、B、DRB1的基因多态性特点。方法：应用聚合酶链反应-直接测序分型（Polymerase chain reaction sequence-based typing,PCR-SBT）法对土族人群中47名健康无血缘关系的个体进行HLA-A、B、DRB1基因座高分辨分型。并将青海土族人群的HLA-DRB1基因与国内其它少数民族人群进行比较。结果：检出HLA-A、B、DRB1的基因型数和等位基因数分别为34、41、42和17、28、30。这3个基因座分布均符合Hardy-Weinberg平衡定律（P〉0.05）。且HLA-DRB1基因座等位基因频率分布与蒙古族有相似之处,表现在基因频率较高的DRB1＊04,DRB1＊07,DRB1＊09,DRB1＊12等位基因。结论：青海土族人群具有独特的HLA-A、B、DRB1基因频率分布特征,且青海土族HLA-DRB1等位基因频率分布与蒙古族有相似之处。
英文摘要：
Objective：To investigate the gene polymorphism of human leukocyte antigen（HLA）-A,B,DRB1 loci in Tu nationality in Qinghai.Methods： Polymerase chain reaction sequence-based typing（PCR-SBT） method was used to detect HLA-A,B and DRB1 genotypes in 47 unrelated healthy Tu nationality from Qinghai.And the results were compared with those of other minority ethnic populations in China.Results： A total of 17 different alleles and 34 genotypes of HLA-A,28 alleles and 41 genotypes of HLA-B,30 alleles and 42 genotypes of HLA-DRB1 were detected,and the 3 loci distribution conforms to the Hardy-Weinberg balance law.We also found HLA-DRB1 locus allele frequencies were similar with Mongolian,it reflected in the high frequency of DRB1＊04,DRB1＊07,DRB1＊09,DRB1＊12.Conclusion： Tu nationality in Qinghai has unique HLA-A,B,DRB1 gene frequency distribution characteristics,and the HLA-DRB1 allele frequencies are similar with the Mongolian.
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