|Title:||Factor V Arg306->Gly Mutation Is Not Associated with Activated Protein C Resistance and Is Rare in Taiwanese Chinese||Authors:||SHEN, MING-CHING
|Keywords:||Factor V;Factor V Arg306;Factor V Gly306;Venous Thrombophilia;Taiwanese Chinese||Issue Date:||2001||Journal Volume:||v.85||Journal Issue:||n.2||Start page/Pages:||270-273||Source:||THROMBOSIS AND HAEMOSTASIS||Abstract:||
Polymerase chain reaction amplification followed by BstO1 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 assay in this patient and his family members clearly showed that factor V Arg306->Gly mutation is not associated with APC resistance (APC sensitivity ratio < 2.0). 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.
|Appears in Collections:||醫學系|
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