PCR-SBT法检测北京地区人群HLA-DRB1遗传多态性

Study on the HLA-DRB1 Polymorphism Determined by High-resolution PCR-SBT in a Population of Beijing Region

目的调查北京地区人群HLA-DRB1基因座多态性,并探讨HLA的聚合酶链反应-直接测序分型(PCR-SBT)在法医物证学中的应用价值。方法应用PCR-SBT分型方法对北京地区人群中494名健康无关个体进行HLA-DRB1基因座高分辨分型。结果检出233种HLA-DRB1基因型、102种DRB1等位基因型,基因型的分布符合Hardy-Weinberg平衡定律,该位点的观察杂合度(Ho)为0.9210,期望杂合度(He)为0.9342,多态信息量(PIC)为0.9333,匹配概率(Pm)为0.0104,个体识别率(DP)为0.9896,非父排除率(PPE)为0.7776。结论使用PCR-SBT对HLA进行精确分型在法医学领域具有重要的应用价值。

Objective To investigate the polymorphism of HLA-DRB1 gene in a population of Beijing region and research on the application feasibility of HLA-DRB1 by PCR-SBT method. Methods Polymerase chain reaction sequence-based typing （PCR-SBT） method was used to determine HLA-DRB1 genotypes of 494 unrelated healthy people of Beijing region. Results A total of 233 different HLA-DRB1 genetypes and 102 alleles were detected. The observed heterozygosity （Ho）, expected heterozygosity （He）, polymor- phism information content （PIG）, probability of matching （Pro）; discrimination power （DP） and probability of paternity exclusion （PPE） of HLA-DRB1 in the samples were calculated and their values were 0.921 0, 0.9342, 0.933 3, 0.0104, 0.9896,and 0.7776 respectively. Conclusion HLA-DRB1 typing by PCR-SBT is very useful in forensic science.