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

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.