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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 locus in Beijing population and to explore the value of PCR-SBT in forensic evidence-based medicine. Methods 494 healthy unrelated individuals in Beijing population were genotyped by HLA-DRB1 genotyping using PCR-SBT method. Results 233 HLA-DRB1 and 102 DRB1 alleles were detected. The distribution of genotypes was in accordance with the Hardy-Weinberg equilibrium law. The observed heterozygosity (Ho) was 0.9210. The expected heterozygosity (He) was 0.9342. The polymorphism information amount (PIC) was 0.9333, the matching probability (Pm) was 0.0104, the individual recognition rate (DP) was 0.9896, and the non-parent exclusion rate (PPE) was 0.7776. Conclusion The accurate typing of HLA using PCR-SBT is of great value in forensic medicine.