中国海南黎族群体HLA-DRB1、DQA1、DQB1基因多态性研究

Genetic Diversity of HLA-DRB1 ,DQA1 ,DQB1 in Chinese Li Population in Hainan

目的了解海南黎族群体HLA-DRB1、DQA1、DQB1基因的遗传多态性。方法应用PCR- SSP方法对随机抽取的94名海南黎族无血缘关系的健康个体进行HLA-DRB1、DQA1、DQB1基因分型。结果鉴定了海南黎族群体HLA-DRB1位点的16种等位基因,DQA1位点的10种等位基因,DQB1位点的19种等位基因,包括了DR、DQ位点目前已知的全部血清学特异性,3个位点的基因型分布均符合Hardy-Weinberg平衡(P>0．5)。结论提供了一套比较完整准确的海南黎族群体DRB1、DQA1、DQB1等位基因的基因频率和连锁不平衡参数。对群体遗传和疾病关联研究具有参考意义。

Objective To investigate polymorphism of HLA-DRBI, DQA1, DQBI in Chinese Li population in Halnan. Methods Polymerase chain reaction-sequence specific primers （PCR-SSP） were used to determine HLA-DRB1, DQA1, DQB1 alleles in 94 unrelated healthy Chinese Li individuals in Hainan province. Results 16 DRB1 alleles were found at DRBI locus, 10 alleles at DQAI locus, 17 alleles at DQBI locus among 19 alleles investigated. The results of test for Hardy-Weinberg equilibrium showed that the genotype distributions observed were correspondent with the expected. Conclusion This study has obtained a more comprehensive and accurate data set of the normal allele frequencies and linkage disequilibria parameters of HLA-DRB1, DQA1, DQB1 in Chinese Li population in Hainan, which may be of significance in the studies on population genetics and disease association.