title: Factor V Leiden, prothrombin G20210A, and protein C mutation frequency in Turkish venous thrombosis patients.
abstract: Several inherited polymorphisms are associated with risk of venous thrombosis, including mutation at codon 506 of the factor V gene, mutation at position 20210 of the prothrombin gene, and mutations in the protein C gene. In this study, genotyping for factor V, prothrombin, and protein C mutations was performed in 50 patients and 25 control subjects by polymerase chain reaction-based analysis. The prevalence of factor V and prothrombin mutations was not significantly different from that in the general population. Nine of the patients had heterozygous protein C mutation. There was a high prevalence of the mutated protein C allele in the pulmonary emboli group (42.8%). Protein C mutation incidence was higher in the pulmonary emboli group than in the deep vein thrombosis (8.33%) and cerebral vein thrombosis (16.1%) groups. These results indicate that patients with protein C deficiency have a greater risk of thrombosis than patients with factor V or prothrombin G20210A mutation.
authors.affiliation: Department of Medical Biology, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey.
authors.forename: Julide
authors.initials: J
authors.lastname: Altinisik
authors.forename: Omer
authors.initials: O
authors.lastname: Ates
authors.forename: Turgut
authors.initials: T
authors.lastname: Ulutin
authors.forename: Mujgan
authors.initials: M
authors.lastname: Cengiz
authors.forename: Nur
authors.initials: N
authors.lastname: Buyru
mesh_terms: D000328:Adult; D000368:Aged; D005165:Factor V / Q000032:analysis*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011486:Protein C / Q000235:genetics*; D020151:Protein C Deficiency / Q000150:complications; D011516:Prothrombin / Q000235:genetics*; D020246:Venous Thrombosis / Q000209:etiology / Q000235:genetics*
chemical_list: D011486:Protein C; C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin