What is – Prothrombin Gene Mutation?
PROTHROMBIN GENE MUTATION – A New Thrombophilia Risk Background In November 1996, a new genetic marker for Thrombophilia was identified by the same group that identified Factor V Leiden. Using the same venous thrombosis patient database, they found a genetic mutation in the 3′ untranslated region (3′-UTR) of the prothrombin (Factor II) gene that was associated with an increased risk of venous thrombosis. Using PCR and gene sequencing, they identified a point mutation at nucleotide position 20210 involving a G to A transition. The study involved almost 500 patients and an equal number of controls. The G to A mutation was found in 2.3% of the healthy normals but occurred more frequently in the patient population. In thrombotic patients with a known family history, 18% of them possessed the mutation compared to a frequency of 6.3% in patients with a first episode of thrombosis. Clinical Application The mutation was equally prevalent in men and woman and was an independent risk factor. The
