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

Ming-Ching Shen; Jen-Shiou Lin; Woei Tsay

doi:10.1055/s-0037-1615696

Thrombosis and Haemostasis, Inhaltsverzeichnis

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

¹Department of Internal Medicine, Division of Hematology, and Laboratory Medicine, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan

,

Jen-Shiou Lin

¹Department of Internal Medicine, Division of Hematology, and Laboratory Medicine, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan

,

Woei Tsay

¹Department of Internal Medicine, Division of Hematology, and Laboratory Medicine, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan

› Institutsangaben

Abstract

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

Volltext

Referenzen

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