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  • Title: [Relationship between three thrombophilic gene mutations and unexplained recurrent early spontaneous abortion].
    Author: Xu L, Liu XM, Zhang HY, Zhao J, Qi QW, Chang YF.
    Journal: Zhonghua Fu Chan Ke Za Zhi; 2007 Mar; 42(3):180-3. PubMed ID: 17537304.
    Abstract:
    OBJECTIVE: 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). METHODS: 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). RESULTS: 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. CONCLUSIONS: 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.
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