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MTHFR和PAI-1基因在不良妊娠人群中的多态性分布及风险评估

Li-ping WANG,Miao MIAO,Jia JIANG,Jun LIU

Pharmaceutical and Clinical Research（2018）

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Abstract
本研究对146例妊娠不良事件人群(研究组)和98例正常生育人群(对照组)进行MTHFR 677C>T和PAI-14G/5G基因分型,探讨基因多态性分布,并对研究组人群进行风险评估.研究显示,MTHFR 677C>T 等位突变率为43.03%,PAI-14G/5G 等位基因突变率为54.31%,且研究组MTHFR 677T等位基因突变率明显高于对照组(44.52% vs 40.80%,P<0.05), 4G等位基因突变频率亦高于对照组(56.51% vs 51.02%,P<0.05).研究组人群中,11例(7.53%)和52例(35.62%)为极高度和高度风险人群.MTHFR基因和PAI-1基因多态性对不良妊娠的发生有重要影响,携带突变等位基因可影响叶酸疗效,从而增加发生不良妊娠的风险.
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Key words
Adverse pregnancy,MTHFR gene,PAI-1 gene,Polymorphism distribution,Risk assessment
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