Factor V Arg306 --> 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. 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.
Department of Internal Medicine, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, ROC. smc@ha.mc.ntu.edu.tw
M C
MC
Shen
J S
JS
Lin
W
W
Tsay
D020016:Activated Protein C Resistance; D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019943:Amino Acid Substitution; D004252:DNA Mutational Analysis; D005165:Factor V / Q000009:adverse effects / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D015995:Prevalence; D013624:Taiwan / Q000453:epidemiology; D020246:Venous Thrombosis / Q000453:epidemiology / Q000209:etiology
D005165:Factor V