北京地区人群HLA-A、B、DRB1的聚合酶链反应-直接测序分型研究

HLA-A, B, DRB1 gene polymorphism of Beijing population was studied by high-resolution polymerase chain reaction sequence-based typing

目的调查北京人群人类白细胞抗原(humanleukocyte antigen,HLA)-A、B、DRB1的基因多态性,获得完整准确的遗传学数据。方法应用聚合酶链反应-直接测序分型(polymerase chain reaction se-quence-basedtyping,PCR-SBT)法对北京地区人群中618名健康无关个体进行HLA-A、B、DRB1基因座高分辨分型。结果检出HLA-A、B、DRB1的基因型数和等位基因数分别为199和84、366和143、286和122,这3个基因座分布均符合Hardy-Weinberg平衡定律(P>0.05)。结论从基因水平分析了北京地区HLA-A、B、DRB1基因座的群体分布特征,提供了一套比较完整准确的HLA-A、B、DRB1等位基因频率、基因型频率,为器官移植的供体选择、法医学个体认定、HLA与疾病相关性及人类学等研究提供了重要的参考数据。

Objective To investigate the gene polymorphism of human leukocyte antigen （HLA） -A, B, DRB1 loci in the population of Beijing region, and research on the application feasibility of polymerase chain reaction sequencebased typing （PCR-SBT） method. Methods PCR-SBT method was applied to determine HLA- A,B,DRB1 genotypes of 618 unrelated healthy individuals of Beijing region. Results A total of 84 different alleles and 199 genotypes of HLA-A, 143 alleles and 366 genotypes of HLA-B, 122 alleles and 286 genotypes of HLA-DRB1 were detected. Conclusion The results showed the characteristics of HLA- A, B, DRB1 distributions, and provided more comprehensive and accurate gene data that may serve as normal reference values for all of Beijing people.