Fas基因启动子-670A/G、第7内含子995A/C多态性与胎膜早破的研究

目的 研究Fas基因启动子、第7内含子多态性各等位基因及基因型在胎膜早破患者中的分布,探讨基因型与胎膜早破的相关性.方法 采用聚合酶链反应-反向点杂交方法 ,DNA直接测序方法 ,检测65例胎膜早破患者和120例正常对照Fas基因的单核苷酸多态性,包括Fas基因启动子-670A/G、第7内含子995A/C位点的基因型.结果 Fas基因第7内含子995A/C位点多态性在胎膜早破组和正常对照组分布差异无统计学意义(P>0.05),而Fas基因启动子-670A/G多态性各等位基因及基因型频率在2组分布差异有统计学意义(P<0.05);胎膜早破患者的GG基因型频率明显高于对照组(χ2=5.27,P<0.05),GG基因型者患胎膜早破的风险性明显高于AG、AA基因型者(OR=2.190,95%CI:1.113～4.312).结论 Fas基因-670位点多态性与胎膜早破的发病具有相关性,其中G等位基因及GG基因型可能是胎膜早破的易感因素.

Association of the Fas gene promoter -670 A/G and intron 7 995A/C polymorphisms with premature rupture of membranes

Objective To study the allele frequency and genotype distribution of Fas gene promoter and intron 7 polymorphism in southern Chinese patients with premature rupture of membranes (PROM), and analyze the relationship between the genotype of Fas and PROM. Methods The polymorphisms of Fas gene, including promoter -670 A/G and intron 7 995A/C, were analyzed by the polymerase chain reaction-reverse dot blot (PCR-RDB) in 65 patients with PROM and 120 healthy controls. Results The distribution of Fas gene in-tron 7 995A/C polymorphisms had no difference between PROM group and control group, but the Fas gene promoter -670A/G polymorphism was significantly different. The Fas 670 G/G genotype significantly increased the risk for developing PROM, compared to the combination of A/C, and A/A genotype, with the odds ratio(OR) of 2. 190, (95% CI: 1.113～4.312). Conclusion The Fas gene -670 polymorphism was associated with PROM. G allele and G/G genotype may be a risk factor for PROM.