title: Multiplex PCR-RFLP assay for detection of factor V Leiden and prothrombin G20210A.
abstract: Factor V Leiden and prothrombin G20210A are clinically relevant genetic risk factors for venous thrombosis. Molecular diagnostic testing for factor V Leiden and prothrombin G20210A is widespread, and laboratories use a variety of technical approaches. Here we introduce a multiplex polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) based on single (Mn/l) restriction endonuclease digestion. The assay was shown to simultaneously and accurately detect factor V Leiden and prothrombin G20210A mutations.
authors.affiliation: Department of Molecular Biology and Genetics, Bogazici University, 34342, Istanbul, Turkey. ibrahim.baris@boun.edu.tr
authors.forename: Ibrahim
authors.initials: I
authors.lastname: Baris
authors.forename: Vedat
authors.initials: V
authors.lastname: Koksal
authors.forename: Ozdal
authors.initials: O
authors.lastname: Etlik
mesh_terms: D020016:Activated Protein C Resistance; D005165:Factor V / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods*; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011516:Prothrombin / Q000235:genetics*; D015183:Restriction Mapping; D012307:Risk Factors; D012680:Sensitivity and Specificity; D020246:Venous Thrombosis / Q000209:etiology / Q000235:genetics
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin