HLA-DQB1启动子多态性与原因不明习惯性流产发病的关联研究

目的 :探讨HLA DQB1启动子区域基因多态性是否与原因不明习惯性流产发病存在关联。方法 :采用聚合酶链反应 序列特异性寡核苷酸探针杂交方法 ,对 32例原因不明习惯性流产患者和 5 3例正常妇女 ,分析DQB1启动子区域基因多态性。结果 :发现DQB1启动子等位基因频率在两组中无统计学上差异 ,而QBP6 2 DQB1 0 6 0 4 0 6 0 5单元型在患者组中的表达频率是 12 5 % ,在对照组中频率是 2 83% ,两者相比差异显著 (RR =4 9,P <0 0 5 )。此外 ,还发现了 6种中国人新的QBP DQB1的单元型。结论 :DQB1启动子与原因不明习惯性流产不存在直接关联 ,但与DQB1组成的单元型可能是导致该病易感性的因素。

The study of the relationship between HLA-DQB1 promotor polymorphism and the susceptibility to unexplained habitual abortion

Objective:To investigate if DQB1 promotor allele polymorphism is associated with the susceptibility to unexplained habitual abortion (UHA).Methods:Polymerase chain reaction-sequence specific oligonucleotide (PCR-SSO) genotyping method was performed to detect HLA-DQB1 promotor (QBP) alleles in 32 cases of unexplained habitual abortion and 53 women with normal pregnancy history.Results:The frequency of QBP alleles was not different between two groups. The frequency of QBP6 2-DQB1*0604/0605 haplotype was 12 5% in patients group and 2 83% in control group, which got statistical significance. Meanwhile, six new haplotypes were first observed in Chinese population.Conclusion:No direct association was found between QBP polymorphism and UHA, but QBP-DQB1 haplotype might play a role in the susceptibility to UHA.