Factor V Arg306 --> Gly mutation is not associated with activated protein C resistance and is rare in Taiwanese Chinese

Abstract

Polymerase chain reaction amplification followed by BstOI enzyme digestion and DNA sequencing was employed to detect the mutation of factor V gene. The subjects consisted of 105 venous thrombophilic patients and 183 healthy controls. Only one patient was found to have factor V Arg306 --> Gly mutation, his elder son also had an identical mutation. None of the healthy subjects studied had Arg306 --> Thr mutation. The rare event of factor V Arg306 --> Gly mutation in patients and controls suggest that this mutation is not associated with increased risk of venous thrombosis. Conventional, modified and extended activated protein C (APC) resistance assays in this patient and his family members clearly showed that factor V Arg306 --> Gly mutation is not associated with APC resistance (APC sensitivity ratio <2). In conclusion, factor V Arg306 --> Gly mutation is rare in Taiwanese Chinese and not associated with APC resistance, it is possibly not a risk factor for venous thrombophilic thrombosis.