title: [The role of 1691G>A (Leiden) mutation in Factor V gene, 20210G>A in prothrombin gene and 677C>T in MTHFR gene in etiology of early pregnancy loss].
abstract: OBJECTIVE
  The objective of this study was to investigate the prevalence of common hereditary risk factors for thrombophilia (mutations 1691G>A, 20210G>A and 677C>T variant in factor V Leiden (FV), prothrombin (FII) and MTHFR gene, respectively)--in a cohort of women with early pregnancy loss.
  
  
  METHODS
  Frequency of mutations in FV, FII and MTHFR was assessed by PCR-RFLP or minisequencing in a cohort of 313 women with a history of at least two miscarriages and the control group consisting of 200 women without obstetric complications.
  
  
  RESULTS
  Compared with controls, neither FV mutation (3.2% vs 3%; p=0.45) nor the MTHFR 677TT variant (8.4% vs 11.1%; p=0.58) was more prevalent in the patients. Mutation in FII gene was more frequent in the patients (3.5% vs 0.5%; p=0.03) when compared with controls, however, the frequency of this mutation in controls was lower than estimated frequency in the population.
authors.affiliation: Katedra i Zakład Genetyki Akademii Medycznej we Wrocławiu, Polska. slezak@gen.am.wroc.pl
authors.forename: Ryszard
authors.initials: R
authors.lastname: Slezak
authors.forename: Łukasz
authors.initials: Ł
authors.lastname: Łaczmański
authors.forename: Paweł
authors.initials: P
authors.lastname: Karpiński
authors.forename: Dorota
authors.initials: D
authors.lastname: Reszczyńska-Slezak
mesh_terms: D000026:Abortion, Habitual / Q000235:genetics*; D000328:Adult; D015331:Cohort Studies; D005165:Factor V / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D017354:Point Mutation; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011516:Prothrombin / Q000235:genetics*; D012016:Reference Values; D019851:Thrombophilia / Q000235:genetics*; D055815:Young Adult
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D042965:Methylenetetrahydrofolate Reductase (NADPH2)