title: [Relationship between three thrombophilic gene mutations and unexplained recurrent early spontaneous abortion].
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.
authors.affiliation: Reproductive Research Center, Qingdao Research Institute for Family Planning, Qingdao 266071, China.
authors.forename: Li
authors.initials: L
authors.lastname: Xu
authors.forename: Xiao-man
authors.initials: XM
authors.lastname: Liu
authors.forename: Hong-yan
authors.initials: HY
authors.lastname: Zhang
authors.forename: Jing
authors.initials: J
authors.lastname: Zhao
authors.forename: Qi-wei
authors.initials: QW
authors.lastname: Qi
authors.forename: Yun-fei
authors.initials: YF
authors.lastname: Chang
mesh_terms: D000026:Abortion, Habitual / Q000235:genetics*; D000328:Adult; D005165:Factor V / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011516:Prothrombin / Q000235:genetics; D012307:Risk Factors; D019851:Thrombophilia / Q000235:genetics
chemical_list: D005165:Factor V; D011516:Prothrombin; D042965:Methylenetetrahydrofolate Reductase (NADPH2)