Multiplex PCR for Detection of the Prothrombin 3′-UTR (G20210A) Polymorphism and the Factor V Leiden Mutation

Abstract

Prothrombotic evaluation of patients with a history—and in particular a family history—of venous thromboembolic disease is becoming increasingly important as our understanding of the molecular abnormalities that underlie this clinical disorder increases. A recently described G→A polymorphism at position 20210 in the 3′-untranslated region of the prothrombin gene (F2 3′-UTR) has been found to be associated with an increased risk of venous thrombotic disease. In the Leiden Thrombophilia Study (LETS), the prevalence of carriers of the 20210 A allele in the healthy population was 2.3%, among patients with a single objectively proven DVT 6.2% and in a selected group of patients with a personal and family history of venous thrombosis 18%.