Association of idiopathic venous thromboembolism with single point-mutation at Arg506 of factor V.
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.
Voorberg
J
J
Department of Blood Coagulation, The Netherlands Red Cross Blood Transfusion Service, Amsterdam.
Roelse
J
J
Koopman
R
R
Büller
H
H
Berends
F
F
ten Cate
J W
JW
Mertens
K
K
van Mourik
J A
JA
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*
D017931:DNA Primers; D011486:Protein C; D005165:Factor V; D001120:Arginine