title: [The occurence of genetic trombophilic markers in patients evaluated for infertility].
abstract: OBJECTIVE
  To assess and compare the frequency of selected gene mutations of thrombophilic markers (FV Leiden, FII prothrombin G20210A and MTHFR C677T) in patients with primary and secondary infertility.
  
  
  METHODS
  Retrospective study.
  
  
  METHODS
  Institute of normal anatomy, Faculty of Medicine and Dentistry, Palacky University Olomouc.
  
  
  METHODS
  The study included 92 patients with primary infertility and 89 patients with secondary infertility. Indications for examination of these mutations were following: a positive family or personal history, a positive obstetrical history or a repeated failure of assisted reproduction treatment.
  
  
  RESULTS
  According to our anticipation, women with the secondary infertility were significantly older(p < 0.0005) than those with primary infertility. No mutations of genes of examined thrombophilic markers (FV, FII and MTHFR), either alone or in combination, were found in only 8.7 % patients with primary infertility and in 5.6 % patients with secondary infertility. Significantly higher frequency of factor Leiden(p < 0.02) was observed in women with secondary infertility. There were no significant differences in the frequency of detected mutations of the remaining factors.
  
  
  CONCLUSIONS
  Based on our findings we suggest that the assessment of selected gene mutations of thrombophilic markers should be a part of the diagnostic algorithm in patients with positive history for thrombophilic disorders.
authors.affiliation: Ústav normální anatomie FN a LF UP, Olomouc. radka.filipcikova@upol.cz
authors.forename: R
authors.initials: R
authors.lastname: Filipčíková
authors.forename: J
authors.initials: J
authors.lastname: Březinová
authors.forename: I
authors.initials: I
authors.lastname: Oborná
authors.forename: Z
authors.initials: Z
authors.lastname: Blažková
authors.forename: V
authors.initials: V
authors.lastname: Krčová
authors.forename: L
authors.initials: L
authors.lastname: Slavík
authors.forename: J
authors.initials: J
authors.lastname: Ulehlová
authors.forename: A
authors.initials: A
authors.lastname: Hluší
authors.forename: M
authors.initials: M
authors.lastname: Bezdičková
mesh_terms: D000328:Adult; D005165:Factor V / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007247:Infertility, Female / Q000150:complications / Q000235:genetics*; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D009154:Mutation; D011516:Prothrombin / Q000235:genetics*; D019851:Thrombophilia / Q000150:complications / Q000235:genetics
chemical_list: D005819:Genetic Markers; C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D042965:Methylenetetrahydrofolate Reductase (NADPH2)