Direct detection of F2 c.*97G>A (PT20210G>A) polymorphism.
The PT20210G>A polymorphism in the 3'UTR of the F2 gene is associated with raised plasma prothrombin levels and is a risk factor for venous thrombosis. It is found in ~1-2% of caucasians (more common in those of southern european descent) but is uncommon in other populations. Heterozygosity is associated with an approximately 3-fold increased risk of thrombosis and it is identified in ~6-8% of thrombophilia patients. Homozygosity is rare, ~1 in 10,000, so the relative risk of thrombosis is difficult to calculate.
Synonyms or keywords:
F2 Leiden (FII Leiden)
Thrombophilia risk factor