MING-CHING SHENLIN, JEN-SHIOUJEN-SHIOULINWOEI TSAY2021-05-252021-05-2520010340-6245https://scholars.lib.ntu.edu.tw/handle/123456789/562368https://www.scopus.com/record/display.uri?eid=2-s2.0-0034746157&doi=10.1055%2fs-0037-1615696&origin=inward&txGid=64c2878fcb3c6c23cac0afd343bd68c1http://ntur.lib.ntu.edu.tw//handle/246246/103303Polymerase 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.enFactor V; Factor V Arg306; Factor V Gly306; Taiwanese Chinese; Venous thrombophilia[SDGs]SDG3arginine; blood clotting factor 5; blood clotting factor 5 Leiden; glycine; blood clotting factor 5; activated protein C resistance; adolescent; adult; aged; article; Chinese; controlled study; DNA sequence; echography; female; gene mutation; genetic association; human; major clinical study; male; polymerase chain reaction; prevalence; priority journal; risk assessment; risk factor; Taiwan; thrombophilia; vein thrombosis; amino acid substitution; family health; genetics; middle aged; nucleotide sequence; point mutation; Taiwan; vein thrombosis; Activated Protein C Resistance; Adolescent; Adult; Aged; Aged, 80 and over; Amino Acid Substitution; DNA Mutational Analysis; Factor V; Family Health; Female; Humans; Male; Middle Aged; Point Mutation; Prevalence; Taiwan; Venous Thrombosisjournal article10.1055/s-0037-1615696112465462-s2.0-0034746157