title: A rapid screening method for the factor V Arg506-->Gln mutation.
abstract: This study compared a rapid method to detect the nucleotide mutation 1691 G-->A, responsible for the factor V Arg506-->Gln substitution, with a previously established denaturing gradient gel electrophoresis (DGGE) technique in 136 patients with unexplained thrombosis. The new method comprises amplification of the factor V gene exon 10 with a modified oligonucleotide, permitting the introduction of a cleavage site for the restriction endonuclease HindIII in the fragments bearing the mutation. This simple, rapid, inexpensive and nonisotopic method gave the same results as the DGGE method in all subjects tested.
authors.affiliation: INSERM U. 428, UFR des Sciences Pharmaceutiques et Biologiques, Paris, France.
authors.forename: S
authors.initials: S
authors.lastname: Gandrille
authors.forename: M
authors.initials: M
authors.lastname: Alhenc-Gelas
authors.forename: M
authors.initials: M
authors.lastname: Aiach
mesh_terms: D001483:Base Sequence; D005091:Exons / Q000235:genetics; D005165:Factor V / Q000032:analysis / Q000235:genetics*; D005166:Factor V Deficiency / Q000097:blood*; D006801:Humans; D008969:Molecular Sequence Data; D017354:Point Mutation; D013927:Thrombosis / Q000097:blood / Q000235:genetics
chemical_list: D005165:Factor V