title: G20210A prothrombin gene mutation identified in patients with venous leg ulcers.
abstract: The G20210A mutation variant of prothrombin gene is the second most frequent mutation identified in patients with deep venous thrombosis, after factor V Leiden. The risk for developing deep venous thrombosis is high in patients identified as heterozygous for G20210A mutation. In order to identify this polymorphism in the gene coding prothrombin, the 345bp fragment in the 3'- untranslated region of the prothrombin gene was amplified using amplification by polymerase chain reaction and enzymatic digestion by HindIII (restriction endonuclease enzyme). The products of amplification and enzymatic's digestion were analized using agarose gel electrophoresis. We investigated 20 patients with venous leg ulcers and we found 2 heterozygous (10%) for G20210A mutation. None of the patients in the control group had G20210A mutation. Our study confirms the presence of G20210A mutation in the Romanian population. Our study also shows the link between venous leg ulcers and this polymorphism in the prothrombin gene.
authors.affiliation: Department of Medical Biochemistry, University of Medicine and Pharmacy Iuliu Hatieganu Cluj Napoca, 6 Pasteur St., 3400 Cluj Napoca, Romania.
authors.forename: G
authors.initials: G
authors.lastname: Jebeleanu
authors.forename: L
authors.initials: L
authors.lastname: Procopciuc
mesh_terms: D000368:Aged; D005260:Female; D006801:Humans; D007866:Leg / Q000098:blood supply* / Q000473:pathology; D008297:Male; D017354:Point Mutation; D011110:Polymorphism, Genetic; D011516:Prothrombin / Q000235:genetics*; D012307:Risk Factors; D012383:Romania; D014647:Varicose Ulcer / Q000235:genetics*; D020246:Venous Thrombosis / Q000235:genetics*
chemical_list: D011516:Prothrombin