Factor II prothrombin is a genetic condition that increases the chance of the blood forming dangerous blood clots. A small part of the population contains a mutation that causes too much prothrombin to be produced, this is called a factor ll mutation. This condition is diagnosed as thrombophilia, also called prothrombin G20210A. In other individuals, the protein prothrombin is produced at normal levels to help blood clot. In case of a factor ll mutation, other conditions such as deep vein thrombosis and arm or leg clot are taken into account. Symptoms that may occur are arm or leg cramps, swelling, skin color change, warm to the touch. If a piece of deep vein thrombosis, DVT, breaks off and travels to the lungs, it can lead to pulmonary embolism. The person may then become short of breath, chest pain, rapid heartbeat, fainting. The factor ll mutation occurs in about 1 in 25 people in Europe, in America this is 1 in 250 people.
For analyzes for prothrombin, DNA isolation is first performed, after which the prothrombin gene is examined for mutations. The moment a gene change is found, nucleotide 20210 has been changed to an A instead of a G, then the person has a factor II mutation. The PCR kit is suitable for detection of this mutation and analyzes the expression of G20210A. Based on this, the PCR kit can diagnose whether the mutation is present or not.
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