目的:探讨亚甲基四氢叶酸还原酶基因(MTHFR)677多态性与复发性流产的相关性.方法:选取复发性自然流产患者50例作为观察组,另选取同期正常妊娠者50例作为对照组;采用PCR-RFLP方法对两组MTHFR基因多态性(C677T)进行检测分析,并观察分析患者妊娠结局.结果:观察组患者CC基因型比例(14.00%)明显低于对照组(44.00%),CT基因型比例(50.00%)则明显高于对照组(26.00%),差异具有统计学意义(P<0.05);观察组患者MTHFR T等位基因分布频率(64.00%)明显高于对照组(46.00%),差异具有统计学意义(P<0.05);观察组三种不同基因型患者其血清同型半胱氨酸水平分布之间存在差异(P=0.000),其中以TT基因型患者最高[(18.9±9.4)mmol/L],CT型患者最低[(11.6±4.2)mmol/L].结论:MTHFR基因677多态性同复发性流产密切相关,其中基因位点C→T突变可造成孕妇血同型半胱氨酸水平上升,造成胎儿发育障碍,引起流产风险上升,临床可通过给予孕妇叶酸口服以降低流产风险.%Objective: To investigate the association of methylenetetrahydrofolate reductase gene (MTHFR) 677 polymorphism with recurrent spontaneous abortion.Methods: Selected patients with recurrent spontaneous abortion 50 cases as the observation group, were selected 50 cases of normal pregnancies as control group, using the method of PCR-RFLP of two groups of MTHFR gene polymorphism (C677T) detection and analysis, observation and analysis of patients with pregnancy outcome.Results: The proportion of CC genotype was significantly lower in the observation group (14.00%) than that in the control group (44.00%) and the CT genotype (50.00%) was significantly higher than that in the control group (26.00%) (P<0.05).The frequencies of the MTHFR T allele in the observation group were significantly higher than those in the control group (64.00% vs 46.00%, P<0.05).The serum homocysteine [(18.9 ± 9.4)mmol / L], and the lowest in CT patients [(11.6 ± 4.2)mmol / L].There was a significant difference between the two groups (P=0.000).Conclusion: MTHFR 677 polymorphism is closely related to recurrent spontaneous abortion.C → T mutation in gene locus can lead to the increase of blood homocysteine level in the pregnant women.It may cause fetal developmental disorder and increase the risk of miscarriage.Folic acid oral to reduce the risk of miscarriage.
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