Molecular genetics of venous thromboembolism.
Venous thrombosis is often familial, but until recently well-defined genetic defects were only found in a minority of patients. The situation changed with the discovery of inherited resistance to activated protein C (APC) as a novel mechanism for familial thrombophilia. It is caused by a single point mutation in the factor V gene, which predicts replacement of Arg506 in the APC-cleavage site with a Gln. APC resistance is found in a majority of patients with familial thrombosis as well as in 3-7% of the general population. It afflicts affected individuals with a life-long increased risk of thrombosis. The factor V gene mutation is the most prevalent single gene defect associated with thromboembolic disease so far described.
Dahlbäck
B
B
Department of Clinical Chemistry, University of Lund, Malmö General Hospital, Sweden.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005165:Factor V / Q000235:genetics* / Q000502:physiology; D006801:Humans; D008875:Middle Aged; D008967:Molecular Biology; D017354:Point Mutation; D020151:Protein C Deficiency; D018455:Protein S Deficiency / Q000235:genetics / Q000503:physiopathology; D012307:Risk Factors; D013924:Thrombophlebitis / Q000209:etiology / Q000235:genetics*
D005165:Factor V