Factor II mutans gene mutation G20210A
Factor-II-Mutation (G20210A) (EDTA code PTMPC)
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Factor II (prothrombin) mutation
this gene mutation occurs in 2 to 3% of the population The prothrombin mutation G20210A also a significant risk factor for the development of thrombosis. Unlike the factor V Leiden mutation, the prothrombin mutation is associated with both venous and arterial thrombosis.
The exchange of guanine for adenine at position 20210 in the regulatory region of the prothrombin gene leads to increased expression of the gene and thus accumulation of the factor in the plasma, which in turn leads to an increase in blood clotting risk
The mutation is usually present in a heterozygous form and is associated with a 2 to 3-fold increased risk of thrombosis. In the rare homozygous form, the risk of thrombosis probably increases 15 to 20 times. It is not uncommon for the prothrombin mutation and Factor V Leiden mutation to be present together.
In women with a genetic predisposition (Factor V and/or prothrombin mutation), the risk of thrombosis may be 30 times higher.