Xu Li, Liu Xiao-man, Zhang Hong-yan, Zhao Jing, Qi Qi-wei, Chang Yun-fei
Reproductive Research Center, Qingdao Research Institute for Family Planning, Qingdao 266071, China.
Zhonghua Fu Chan Ke Za Zhi. 2007 Mar;42(3):180-3.
To explore the relationship of methylenetetrahydrofolate reductase (MTHFR) gene C677T, factor V (FV) gene G1691A and prothrombin (PT) gene G20210A polymorphisms to unexplained recurrent early spontaneous abortion (URESA).
One hundred and twelve patients with URESA and 100 women with at least 1 normal pregnancy and without any miscarriage were analyzed for MTHFR, FV and PT gene polymorphisms by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).
MTHFR gene T/T genotype and T allele frequencies were increased in URESA patients [38.4% (43/112) and 59.8% (134/224)] versus controls [18.0% (18/100) and 43% (43/100), P<0.01]. The patients carrying T/T genotype had a high risk of URESA (OR=2.8390, 95% CI: 1.5022 - 5.3661). However, FV and PT G20210A mutations were not found either in patients or in controls.
The genetic polymorphisms of MTHFR C677T are associated with URESA. It might indicate a genetic influence on pathogenesis of URESA. FV and PT gene mutations may be rare in Chinese women, and have no significance in URESA.
探讨亚甲基四氢叶酸还原酶（MTHFR）基因C677T、凝血因子V（FV）基因G1691A和凝血酶原（PT）基因G20210A多态性与不明原因复发性早期自然流产（URESA）的关系。
采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术，对112例URESA患者和100例至少有1次正常妊娠且无流产史的妇女进行MTHFR、FV和PT基因多态性分析。
URESA患者中MTHFR基因T/T基因型和T等位基因频率[38.4%（43/112）和59.8%（134/224）]高于对照组[18.0%（18/100）和43%（43/100），P<0.01]。携带T/T基因型的患者发生URESA的风险较高（OR=2.8390，95%CI：1.5022 - 5.3661）。然而，患者和对照组均未发现FV和PT G20210A突变。
MTHFR C677T基因多态性与URESA相关。这可能提示基因对URESA发病机制有影响。FV和PT基因突变在中国女性中可能罕见，且在URESA中无意义。
