母胎亚甲基四氢叶酸还原酶基因C677T多态性与不明原因习惯性流产发生风险的相关性研究  

Association between maternal and fetal MTHFR polymorphism(C677T) and risk of unexplained recurrent spontaneous abortion

作　　者：李乾 常亮[2] 刘平[2] 刘娟 路建波 高华方 马旭 LI Qian;CHANG Liang;LIU Ping;LIU Juan;LU Jian-bo;GAO Hua-fang;MA Xu(National Research Institute for Family Planning,Beijing 100081;Center for Reproductive Medicine,Peking University Third Hospital,Beijing 100191)

机构地区：[1]国家卫生计生委科学技术研究所国家人类遗传资源中心,北京100081 [2]北京大学第三医院妇产科生殖医学中心,北京100191

出　　处：《生殖医学杂志》2018年第10期981-985,共5页Journal of Reproductive Medicine

基　　金：北京大学第三医院种子基金(Y83480-01);中央公益科研院所基本科研业务经费(2016GJM04)

摘　　要：目的探讨母亲和胎儿亚甲基四氢叶酸还原酶(MTHFR)C677T基因多态性与不明原因习惯性流产的相关性。方法选取100例不明原因习惯性流产史的患者为病例组,同时收集70例病例组中流产胎儿组织样本;另征集100例正常妊娠者作为对照,其中70例有胎儿脐带血。采用PCR-芯片杂交法检测病例组、对照组以及流产胎儿组织、脐带血的MTHFR C677T基因多态性,统计学分析不同基因型孕妇、胎儿与不明原因习惯性流产风险的相关性。结果对照组C/C基因型频率显著高于病例组C/C基因型频率(35.0%vs.18.0%)(P<0.05),两组C/T基因型频率比较无显著性差异(P>0.05),病例组T/T基因型频率显著高于对照组T/T基因型频率(38.0%vs.24.0%)(P<0.05);与对照组相比,病例组等位基因C频率(40.0%vs.55.5%)显著降低,而等位基因T频率(60.0%vs.45.5%)显著升高,差异具有统计学意义(P<0.05);病例组与对照组配对的母亲-胎儿同时携带MTHFR677位T等位基因比较,频率显著升高(74.3%vs.52.9%),差异有统计学意义(P<0.05)。结论 MTHFRC677T基因型多态性是不明原因习惯性流产风险因子之一,若母婴同时携带T等位基因,不明原因习惯性流产风险进一步升高。Objective： To investigate the association between recurrent spontaneous abortion. MTHFR polymorphism C677T and unexplained Methods： A hundred patients with unexplained recurrent spontaneous abortion were selected as case group,and 70 samples of abortion fetal tissues were collected. Another 100 healthy women with normal pregnancy history served as control group, and 70 samples of fetal umbilical cord blood were collected. PCR chip hybridization was applied to detect the MTHFR gene C677T polymorphism. The correlation between MTHFR polymorphism and the risk of unexplained recurrent spontaneous abortion was analyzed based on different genotype groups. Results： The incidence of C/C genotype in the control group was significantly higher than that in the casegroup（35.0% vs. 18. 0%） （P〈0. 05）. There was no significant difference in the incidence of C/T genotype between the two groups（P〈0.05）. The incidence of genotype T/T genotype in case group were significantly higher than that in the control group（38.0% vs. 24. 0%） （P〈0. 05）. Compared with the control group, the incidence of allele C was significantly lower（40.0% vs. 55.5%）, but the incidence of allele T was significantly higher （60.0% vs. 45.5%）in case group （P〈0.05）. There was also significant difference in the incidence of both mother and fetus carrying T allele between the case group and the control group（74.3% vs. 52.9%） （P〈0.05）. Conclusions： MTHFR C677T polymorphism is related with the risk of unexplained recurrent spontaneous abortion. Furthermore, both mother and fetus carrying T allele enhances the risk of unexplained recurrent spontaneous abortion.

关 键 词：母胎 亚甲基四氢叶酸还原酶 C677T多态性 不明原因习惯性流产 

分 类 号：R714.21[医药卫生—妇产科学]