PAI-1活性和基因多态性与重复性早期流产的相关性研究

Association of plasminogion activator inhibitor-1 gene 4G/5G polymorphism and activity levels in plasma with repeated spontaneous abortion

目的探讨中国汉族妇女纤溶酶原激活物抑制物（PAI-1）血浆活性水平及其基因4G／5G多态性和重复性早期流产的关系。方法应用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）分析法和发色底物法检测自然流产组和正常对照组妇女PA1-1基因4G／5G多态性及其血浆中活性水平。结果自然流产组4G／4G基因型频率（38．3％）和4G等位基因频率（62．5％）显著高于正常非妊娠组（15．7％和45.1％）和正常妊娠组（16．7％和47.2％），有显著性差异（P〈0．01）；各基因型血浆PA1-1活性由高到低依次为4G／4G纯合子、4G／5G杂合子、5G／5G纯合子，且各基因型间两两比较均有显著性差异（P=0．000-0．041）。结论中国汉族妇女中存在PA1-1基因4G／SG多态性，且与不明原因重复性流产密切相关；各基因型血浆PAI-1活性由高到低依次为4G／4G、4G／5G、5G／5G，且与基因型密切相关；检测PA1-1易栓性突变对重复性早期流产的早期诊断和预防性治疗有一定指导意义。

Objective ： To investigate the relationship of the polymorphism in plasminogion activator inhibitor - 1 （ PAI - 1 ） gene and activity levels in plasma with repeated spontaneous abortion in Chinese women of Han nationality. Methods： The 4G/5G polymorphism of PAI - 1 gene in repeated spontaneous abortion patients and healthy non - pregnant women and normal pregnant women was detected by reaction - restriction fragment length polymerase chain polymorphism （ PCR - RFLP） ; The plasma PAI - 1 activity was detected by synthetic chromogenic substrate assay. Results ： There were significant differences between study group and control group about the genotype frequencies. And the 4G/4G genotype and 4G allele frequencies （38.3% and 62. 5% ） in spontaneous abortion patients were higher than those （ 15.7% and 45. 1% ） in healthy non - pregnant women and those （ 16, 7% and 47.2% ） in normal pregnant women （ P 〈 0. 01 ）. The plasma PAI - 1 activity in 4G allele homozygous genotype were higher than those in 4G/5G heterozygous and 5G allele homozygous, significant differences existed between every two genotypes （ P =0. 000 -0. 041 ）. Conclusion： The PAI -1 gene polymorphism is present in Chinese women of Han nationality and keep close correlation with unexplained repeated spontaneous abortion patient ; The plasma PAI - 1 activity that increases significantly after pregnancy may be one of the independent risk factors contributing to poor pregnancy outcomes ; Detection and discover of thrombophilic mutations by molecular biological methods may be helpful to clinical diagnosis and estimation of pregnancy outcomes.