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目的 探讨叶酸代谢关键酶亚甲基四氢叶酸还原酶(MTHFR)基因C677T、A1298C多态性及叶酸摄入量与不良孕产史的相关性.方法 选取140例有不良孕产史的妇女(病例组)和280例正常孕妇(对照组),采用荧光定量PCR检测口腔黏膜细胞MTHFR基因C677T和A1298C的多态性,并对研究对象孕期叶酸摄人情况进行调查;通过病例对照研究回顾性分析MTHFR基因多态性及叶酸摄入量与不良孕产史的关系.结果 MTHFR基因677位点TT基因型在不良孕产史病例组的分布频率(36.4％)较对照组(26.1％)升高(x2 =4.812,P＜0.05);MTHFR基因1298位点CC基因型在病例组的分布频率(4.3％)较对照组(1.1％)升高(x2=4.588,P＜0.05);孕前未补充叶酸在病例组中的分布频率(80％)与对照组(63.9％)相比,差异具有统计学意义(P＜0.05),提示叶酸摄入不足与不良孕产史的发生正相关;孕前未补充叶酸的孕妇中,TT基因型在病例组和对照组所占的比例分别为35.7％和20.7％,两者之间有统计学差异(x2=8.013,P＜0.05).结论 MTHFR基因677TT、1298CC增加了不良妊娠的发生风险,孕期叶酸摄入不足是不良妊娠发生的危险因素,对于检测出MTHFR677TT的孕妇,更应于孕前补充足量的叶酸.“,”Objective To explore the relationship between the methylenetetrahydrofolate reductase (MTHFR) gene C677T,A1298C polymorphism and folate intake with unhealthy gravidity history.Methods Totally 140 women with unhealthy gravidity history and 280 controls were genotyped for MTHFR gene C677T and A1298C polymorphism using fluorescent quantitative PCR.According to the situation of folic acid intake,the research object is divided into folic acid supplement group,folic acid deficiency group.Through the retrospective case control study the relationship between MTHFR gene polymorphism and folicacid intake and adverse pregnancy history.Results MTHFR gene polymorphism and folic acid intake is the influence factors of adverse pregnancy.The distribution frequency of MTHFR 677TT genotype in the abnormal pregnancy group was significantly increased compared with the control group (36.4％ vs.26.1％,x2 =4.812,P ＜ 0.05);The distribution frequency of MTHFR 1298CC geno-ype in the abnormal pregnancy group was significantly increased compared with the control group(4.3％ vs.1.1％,x2 =4.588,P ＜ 0.05);There were significant difference between case and control group in folate supplement (80％ vs.63.9％,x2 =11.328,P ＜ 0.05).Pregnancy without supplementation of folic acid inpregnant women who have TT genotype,There were significant difference between case and control group(35.7％vs.20.7％,x2 =8.013,P ＜0.05).Conclusion MTHFR 677TT and 1298CC mutation allele may be related to the increased risk of unhealthy gravidity history.PericonceptionalMother with folate intake deficiency may increase risk for adverse pregnancy.For the detection of MTHFR677TT in pregnant women,should be more than enough folic acid supplement before pregnancy.