白介素-12B基因多态性与原因不明复发性流产的易感性研究

目的:探讨IL-12B基因启动子区多态性与山东潍坊地区汉族育龄期妇女原因不明复发性流产(URSA)的相关性。方法:采用直接测序法检测83例原因不明复发性流产孕妇和90例正常孕妇IL-12B基因的启动子区的多态位点,并分析IL-12B基因多态性与原因不明复发性流产的关系。结果:IL-12B的启动子区检测到2个单核苷酸多态性(SNPs)(-671G/T和-405G/T)。2个SNPs紧密连锁,多态性分布符合Hardy-Weinberg平衡。URSA组和对照组的基因型和等位基因频率分布比较,差异无统计学意义(P0.05)。单体型分析显示,-671T/-405G频率在URSA组和正常对照组分别为0.65和0.41,URSA组显著高于正常对照组,差异有统计学意义(P0.05)。结论:正常孕妇IL-12B基因启动子区存在多态性变异,其中-671G/T和-405G/T构成的单体型-671T/-405G可能与URSA的易感性有关。

Study on association of IL-12B gene polymorphisms with unexplained recurrent spontaneous abortion

Objective: To investigate the relationship between the genetic polymorghism of interleukin 12B( IL-12B) promoter region and unexplained recurrent spontaneous abortion( URSA) in the Han nationality of women of childbearing age in northern China. Methods: 83 unexplained recurrent abortion of pregnant women and 90 normal pregnant women IL-12 b gene promoter region polymorphism loci were detected by direct sequencing method. The relationship between IL-12 B gene polymorphism and URSA were analyzed. Results: Two SNPs were detected in the promoter of IL-12 B gene:-671 G / T and-405 G / T. The two SNPs showed close linkage and its polymorphism distribution was consistent with Hardy-Weinberg equilibrium. Their genotype and allele frequencies in the URSA group did not differ from those in the normal group( P> 0. 05). The frequency of haplotype-671 T /-405 G was significantly lower in URSA group compared with the normal goup( 0. 65 vs 0. 41,P = 0. 020). Conclusion: Two polymorphism sites were detected in the promoter region of IL-12 B gene,and haplotype-671 T /-405 G may be associated with URSA in the Han nationality of women of childbearing age in northern China.