【摘要】 目的探讨血栓形成因子基因多态性与习惯性流产的关系。方法通过快速循环PCR和荧光共振能量转移技术分析纤溶酶原激活物抑制剂(Plasminogen activator inhibitor-1,PAI-1)5G/4G、凝血因子V(Factor V,FV)G1691A、凝血因子Ⅱ(FactorⅡ,FⅡ)G20210A和亚甲基四氢叶酸还原酶(Methylenetetrahydrofolate reductase,MTHFR)C677T的基因多态性在130例习惯性流产妇女和130例健康妇女之间分别频率的差异。结果在习惯性流产妇女中,FV和FII G/A杂合基因型频率(FV:11.5%,FⅡ:15.4%)显著高于对照组(FV:3.8%,FⅡ:2.3%)(P<0.01);等位基因A的突变频率(FV:5.8%,FⅡ:7.7%)显著高于对照2组(FV:1.9%,FⅡ:1.2%)(P<0.01)。PAI-1 5G/4G杂合子频率(40.8%)显著高于对照组(23.8%)(P<0.05),且病例组纯合子4G/4G、5G/5G和等位基因频率与对照组之间没有显著性差异。病例组MTHFR C677T的基因型和等位基因频率与对照组之间没有显著性差异。结论 FV G1691A和FII G20210A G/A杂合基因型是习惯性流产发生的高危险因素,PAI-1 5G/4G杂合基因型是习惯性流产发生的低危险因素,而MTHFR C677T基因型与习惯性流产发生没有直接关系。更多还原

【Abstract】 Objective:The present study investigated the association between genetic polymorphisms of selected thrombophilic factors with recurrent miscarriage. Methods:The genetic polymorphisms for plasminogen activator inhibitor-1 5G/4G(PAI-1),Factor V(FL)G1691A,Factor Ⅱ G20210A(FⅡ)and methylenetetrahydrofolate reductase(MTHFR)C677T were determined in 130 recurrent miscarriage women and 130 healthy women through rapid-cycle PCR and fluorescence resonance energy transfer. Results:In recurrent miscarriage women,The frequencies of genotype G/A for FVL and FⅡ were significantly higher in recurrent miscarriage women(FV:11.5%,FⅡ:15.4%)than in controls(FV:3.8%,FⅡ:2.3%)(P<0.01). And the frequencies of the A mutated allele for FVL and FⅡ were significantly higher in recurrent miscarriage women(FV:5.8%,FⅡ:7.7%)than in controls(FV:1.9%,FⅡ:1.2%)(P<0.01). The frequency of heterozygosity for PAI-1 5G/4G(40.8%)was significantly higher than in controls(23.8%)(P<0.05)whereas no difference was found in the case of homozygosity 4G/4G,5G/5G and allele frequency. No difference was found in the frequency of MTHFR C677 T genetype and allele. Conclusion:The FV and FⅡ polymorphisms and recurrent miscarriage women had a clear association,PAI-1 seemed to be weakly associated with recurrent miscarriage,whereas The role of MTHFR C677 T polymorphisms was not associated with recurrent miscarriage.更多还原