title: Simple and rapid detection of factor V Leiden by allele-specific PCR amplification.
abstract: Resistance to activated protein C is the most common hereditary cause for thrombosis and significantly linked to factor V Leiden. In this study, primers were designed to identify the factor V mutation by allele-specific PCR amplification. 126 patients with thromboembolic events were analysed using this technique, PCR-RFLP and direct sequencing. The concordance between these techniques was 100%. In 27 patients a heterozygous factor VGln506 mutation was detected, whereas one patient with recurrent thromboembolism was homozygous for the point mutation. Due to its time- and cost-saving features allele-specific amplification should be considered for screening of factor VGln506.
authors.affiliation: Department of Internal Medicine, Virchow-Klinikum, Humboldt-Universität zu Berlin, Germany.
authors.forename: R
authors.initials: R
authors.lastname: Blasczyk
authors.forename: M
authors.initials: M
authors.lastname: Ritter
authors.forename: C
authors.initials: C
authors.lastname: Thiede
authors.forename: J
authors.initials: J
authors.lastname: Wehling
authors.forename: G
authors.initials: G
authors.lastname: Hintz
authors.forename: A
authors.initials: A
authors.lastname: Neubauer
authors.forename: H
authors.initials: H
authors.lastname: Riess
mesh_terms: D000483:Alleles; D001483:Base Sequence; D004351:Drug Resistance; D005165:Factor V / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction / Q000379:methods*; D011486:Protein C / Q000494:pharmacology; D013927:Thrombosis / Q000097:blood / Q000235:genetics*
chemical_list: D011486:Protein C; C095381:factor V Leiden; D005165:Factor V