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Molecular Genetics of Factor V Leiden: Genetic Origins and Modern DNA-Based Detection Strategies

Medical Sciences Section, Regional Technical College, Bishopstown, Cork, Ireland

Carmel Wall, MB, FFA(RCSI)

Department of Anaesthetics, Cork University Hospital, Wilton, Cork, Ireland

Séamus Fanning, BSc, PhD

Department ofAnaesthetics, Harefield Hospital, Harefield, Middlesex, UK

It has been acknowledged that a prothrombotic tendency may result from a specific genetic defect. Resistance to activated protein C (APC) (factor V Leiden) is now recognized as the most prevalent cause of increased thrombogenicity, being found in 2% to 5% of the world population. The APC-resistant phenotype arises from a well-characterized transitional mutation, resulting in an arginine(R)-506-glutamine(Q) amino acid substitution. Much remains to be uncovered concerning the importance of this mutation and how it relates to other conditions on a broader basis. Relevant and accurate detection methods that quickly identify the genetic lesion will play a major part in this strategy. This article details recent advances in identifying the factor V Leiden mutation by modern molecular techniques.

Seminars in Cardiothoracic and Vascular Anesthesia, Vol. 1, No. 4, 333-341 (1997)
DOI: 10.1177/108925329700100406


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