title: Simple and rapid combined genetic diagnosis of mutation (1691 G-->A) of the factor V gene and (20210 G-->A) of the prothrombin gene.
abstract: We have developed a rapid method which allows us simultaneously to determine two genetic variations that are associated with an increased risk of venous thrombosis: the 20210 G-->A mutation present in the 3'-UT region of the prothrombin gene and the 1691 G-->A mutation giving rise to factor V Leiden. Our strategy involves the coamplification of exon 10 of the factor V gene and of the region 3' from the prothrombin gene using modified oligonucleotides, permitting the introduction of a single HindIII cleavage site in fragments bearing one of the mutations. As a result of its time- and cost-saving features, this combined method should be considered for screening large numbers of patients.
authors.affiliation: CNRS UMR 5533, Hôpital Cardiologique, Pessac, France.
authors.forename: V G
authors.initials: VG
authors.lastname: Dupérat
authors.forename: M
authors.initials: M
authors.lastname: Fauchon
authors.forename: A T
authors.initials: AT
authors.lastname: Nurden
authors.forename: C
authors.initials: C
authors.lastname: Vergnes
mesh_terms: D004252:DNA Mutational Analysis / Q000379:methods*; D015247:Deoxyribonuclease HindIII / Q000378:metabolism; D005091:Exons; D005165:Factor V / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D016133:Polymerase Chain Reaction; D011516:Prothrombin / Q000235:genetics*; D020246:Venous Thrombosis / Q000235:genetics
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D015247:Deoxyribonuclease HindIII