Factor V Arg(306)-> Gly mutation is not associated with activated protein C resistance and is rare in Taiwanese Chinese

Polymerase chain reaction amplification followed by BstOI enzyme digestion and DNA sequencing was employed to detect the mutation of factor V gene. Th e subjects consisted of 105 venous thrombophilic patients and 183 healthy c ontrols. Only one patient was found to have factor V Arg(306) ' Gly mutatio n, his elder son also had an identical mutation. None of the healthy subjec ts studied had Arg(306) ' Thr mutation. The rare event of facto; V Arg(306) --> Gly mutation in patients and controls suggest that this mutation is no t associated with increased risk of venous thrombosis. Conventional, modifi ed and extended activated protein C (APC) resistance assays in this patient and his family members clearly showed that factor V Arg(306) --> Gly mutat ion is not associated with APC resistance (APC sensitivity ratio <2). In co nclusion, factor V Arg(306) ' Gly mutation is rare in Taiwanese Chinese and not associated with APC resistance, it is possibly not a risk factor for v enous thrombophilic thrombosis.