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Thromb Haemost 2001; 85(02): 270-273
DOI: 10.1055/s-0037-1615696
Review Article
Schattauer GmbH

Factor V Arg306 → Gly Mutation Is not Associated with Activated Protein C Resistance and Is rare in Taiwanese Chinese

Ming-Ching Shen
1   Department of Internal Medicine, Division of Hematology, and Laboratory Medicine, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan
,
Jen-Shiou Lin
1   Department of Internal Medicine, Division of Hematology, and Laboratory Medicine, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan
,
Woei Tsay
1   Department of Internal Medicine, Division of Hematology, and Laboratory Medicine, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan
› Author Affiliations
Further Information

Publication History

Received 20 June 2000

Accepted after revision 18 August 2000

Publication Date:
08 December 2017 (online)

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Summary

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.

Key words

Factor V - factor V Arg306 - factor V Gly306 - venous thrombophilia - Taiwanese Chinese
 

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