title: Association of idiopathic venous thromboembolism with single point-mutation at Arg506 of factor V.
abstract: Abnormal coagulation factor V may underlie the thrombotic events associated with resistance to activated protein C (APC). We analysed 27 consecutive patients with documented idiopathic (recurrent) thromboembolism for the occurrence of point mutations within the APC sensitive regions of blood coagulation factor V. In 10 patients we observed a single basepair mutation resulting in a substitution of Arg506 to Gln. This mutation was significantly linked to in-vitro resistance to APC in these subjects. This mutation at Arg506 of factor V may form the molecular basis for the thrombotic events associated with APC resistance.
authors.affiliation: Department of Blood Coagulation, The Netherlands Red Cross Blood Transfusion Service, Amsterdam.
authors.forename: J
authors.initials: J
authors.lastname: Voorberg
authors.forename: J
authors.initials: J
authors.lastname: Roelse
authors.forename: R
authors.initials: R
authors.lastname: Koopman
authors.forename: H
authors.initials: H
authors.lastname: Büller
authors.forename: F
authors.initials: F
authors.lastname: Berends
authors.forename: J W
authors.initials: JW
authors.lastname: ten Cate
authors.forename: K
authors.initials: K
authors.lastname: Mertens
authors.forename: J A
authors.initials: JA
authors.lastname: van Mourik
mesh_terms: D000328:Adult; D000368:Aged; D001120:Arginine / Q000737:chemistry*; D001482:Base Composition; D001483:Base Sequence; D017931:DNA Primers / Q000737:chemistry; D005165:Factor V / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D017354:Point Mutation; D011486:Protein C / Q000235:genetics*; D012008:Recurrence; D013923:Thromboembolism / Q000235:genetics*
chemical_list: D017931:DNA Primers; D011486:Protein C; D005165:Factor V; D001120:Arginine