title: Genetic diagnosis of factor V Leiden using heteroduplex technology.
abstract: A new genetic test has been developed for detection of the mutation known as factor V Leiden. The test employs heteroduplex technology and comprises a single PCR reaction followed immediately by PCR product analysis. It therefore represents the minimum practical route from blood/tissue sample to genetic result. A cohort of 100 patients with a history of thrombosis have been screened using both the new heteroduplex test and a previously described PCR-restriction endonuclease test. Results gave 100% correlation: normals 75 (75%), heterozygotes 24 (24%) and homozygotes 1 (1%). The heteroduplex test has been shown to give straightforward diagnosis in three different analytical systems: standard polyacrylamide gel electrophoresis (PAGE), mini-gel PAGE and capillary electrophoresis. The latter system is semiautomated, therefore rapid through-put of large sample numbers is now possible.
authors.affiliation: Arthur Bloom Center, Department of Haematology, University of Wales College of Medicine, Heath Park, Cardiff, S Wales, UK.
authors.forename: D J
authors.initials: DJ
authors.lastname: Bowen
authors.forename: G R
authors.initials: GR
authors.lastname: Standen
authors.forename: S
authors.initials: S
authors.lastname: Granville
authors.forename: S
authors.initials: S
authors.lastname: Bowley
authors.forename: N A
authors.initials: NA
authors.lastname: Wood
authors.forename: J
authors.initials: J
authors.lastname: Bidwell
mesh_terms: D005165:Factor V / Q000235:genetics*; D005821:Genetic Techniques; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods
chemical_list: C095381:factor V Leiden; D005165:Factor V