title: Genetic analysis of factor V Leiden in a family with history of thrombosis and venous leg ulcers.
abstract: Inherited resistance to activated protein C has been recognized as a major risk factor for thrombosis. The factor V Leiden mutation, which is detectable by molecular DNA techniques, is responsible for 95% of cases of activated protein C resistance. In our study one patient with venous leg ulcers from a family with a history of thrombosis showed factor V Leiden mutation. Genotypic analysis demonstrated that the patient was homozygous for factor V Leiden. All family members of the index subject showed the same abnormalities. Two were homozygous and 3 were heterozygous for factor V Leiden mutation. The polymerase chain reaction was used to amplify exon 10 of the factor V gene, followed by enzymatic digestion with MnlI for mutation detection. Patients with a family history of thrombosis and factor V Leiden have an increased risk of venous leg ulcers. Screening for factor V Leiden may be indicated in patients with venous leg ulcers and their family members.
authors.affiliation: University of Medicine and Pharmacy "Iuliu Hatieganu", Department of Medical Biochemistry, 6 Pasteur St., 3400 Cluj Napoca, Romania. Lucia.p@clujnapoca.ro
authors.forename: Lucia M.
authors.initials: LM
authors.lastname: Procopciuc
authors.forename: C.
authors.initials: C
authors.lastname: Has
authors.forename: C.
authors.initials: C
authors.lastname: Drugan
authors.forename: Cristina
authors.initials: C
authors.lastname: Capusa
authors.forename: Gh.
authors.initials: G
authors.lastname: Jebeleanu