Resistance to activated protein C and a novel factor V gene mutation.
A novel mutation in the factor V gene of the blood coagulation cascade has been identified recently. The mutation confers a lifelong hypercoagulable state, and carriers of the mutation have an approximate eightfold increase in relative risk for the development of venous thrombosis. Carriers of the mutation manifest a laboratory coagulation defect termed resistance to activated protein C (APC). This article reviews the discovery of APC resistance, the identification of the factor V gene mutation, and laboratory approaches to their diagnosis.
Voelkerding
K V
KV
Department of Pathology and Laboratory Medicine, University of Wisconsin Medical School, Madison, 53792-2472, USA.
D001483:Base Sequence; D001777:Blood Coagulation / Q000187:drug effects; D001778:Blood Coagulation Disorders / Q000503:physiopathology; D004262:DNA Restriction Enzymes; D004351:Drug Resistance / Q000235:genetics; D005165:Factor V / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008954:Models, Biological; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011486:Protein C / Q000494:pharmacology* / Q000502:physiology; D012307:Risk Factors; D013927:Thrombosis / Q000235:genetics
D011486:Protein C; D005165:Factor V; D004262:DNA Restriction Enzymes