https://scholars.lib.ntu.edu.tw/handle/123456789/562368
標題: | Factor V Arg306 → Gly mutation is not associated with activated protein C resistance and is rare in Taiwanese Chinese | 作者: | MING-CHING SHEN LIN, JEN-SHIOU WOEI TSAY |
關鍵字: | Factor V; Factor V Arg306; Factor V Gly306; Taiwanese Chinese; Venous thrombophilia | 公開日期: | 2001 | 卷: | 85 | 期: | 2 | 起(迄)頁: | 270-273 | 來源出版物: | Thrombosis and Haemostasis | 摘要: | 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. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/562368 https://www.scopus.com/record/display.uri?eid=2-s2.0-0034746157&doi=10.1055%2fs-0037-1615696&origin=inward&txGid=64c2878fcb3c6c23cac0afd343bd68c1 http://ntur.lib.ntu.edu.tw//handle/246246/103303 |
ISSN: | 0340-6245 | DOI: | 10.1055/s-0037-1615696 | SDG/關鍵字: | arginine; 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 Thrombosis |
顯示於: | 醫學院附設醫院 (臺大醫院) |
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