PROTHROMBIN GENE MUTATION Prothrombin gene mutation is the second most common cause of inherited thrombophilia in the United States. It is present in about 2% of Caucasians. It is caused by a cha nge or mutation in the gene for the blood clotting protein called prothrombin (which is also called Factor II). Prothrombin gene mutation is the second most common cause of inherited thrombophilia in the United States. It is present in about 2% of Caucasians. It is caused by a change or mutation in the gene for the blood clotting protein called prothrombin (which is also called Factor II).
Prothrombin: A coagulation (clotting) factor that is needed for the normal clotting of blood. A cascade of biochemical events leads to the formation of the final clot. In this cascade, prothrombin is a precursor to thrombin. Prothrombin is also known as thrombinogen and, in medical jargon, as pro. See also: Prothrombin mutation G20210A; and Prothrombin time. PROTHROMBIN GENE MUTATION Prothrombin gene mutation is the second most common cause of inherited thrombophilia in the United States. It is present in about 2% of Caucasians. It is caused by a cha nge or mutation in the gene for the blood clotting protein called prothrombin (which is also called Factor II). People with the prothrombin gene mutation have higher than normal levels of prothrombin in their blood, making them prone to blood clots, most common in the veins. People who have prothrombin mutation G20210A have a 2-to-3 fold increase in the risk of DVT. Persons who have this mutation plus the Factor V Leiden mutation have a 10-to-20 fold increase in thrombotic risk. Prothrombin mutations have also been linked with thrombotic events other than DVT, including recurrent miscarriage (repeat spontaneous abortions). It raises the risk of thrombosis significantly for both males and females in all age groups. Prothrombin mutation G20210A gives rise to slowed mRNA degradation and to an increase in circulating prothrombin levels. This appears to create a hypercoagulable state. 1. prothrombin-a protein in blood plasma that is the inactive precursor of thrombin. factor II. clotting factor, coagulation factor-any of the factors in the blood whose actions are essential for blood coagulation.  From Wikipedia, the free encyclopedia. Prothrombin G20210A (also the prothrombin 20210 mutation, the factor II mutation, or the prothrombin mutation) is a genetic variant that approximately doubles or triples the risk of forming blood clots in the veins. The polymorphism is located in a noncoding region of the prothrombin gene (3' untranslated region nucleotide 20210), replacing guanine with adenine. The position is at or near where the pre-mRNA will have the poly-A tail attached. Prothrombin gene mutation: A form of inherited thrombophilia caused by a mutation in the gene for the blood clotting protein called prothrombin. Pulmonary embolism: A blood clot forms in the deep veins of the legs or other locations and then travels to the lung. It is caused by a cha nge or mutation in the gene for the blood clotting protein called prothrombin (which is also called Factor II). People with the prothrombin gene mutation have higher than normal levels of prothrombin in their blood, making them prone to blood clots, most common in the veins. Prothrombin G20210A was identified in the 1990s, is almost exclusively present in Caucasians, and is estimated to have originated in that population slightly over 20,000 years ago. About 2 to 3% of Caucasians carry the variant, and it confers a 2- to 3-fold higher risk of VTE. The polymorphism is located in a noncoding region of the prothrombin gene (3' untranslated region nucleotide 20210), replacing guanine with adenine. The position is at or near where the pre-mRNA will have the poly-A tail attached. Prothrombin mutation G20210A: A common genetic risk factor for thrombosis (clots) including deep venous thrombosis (DVT). This mutation in the gene encoding the clotting factor prothrombin is found in about 1 in 50 persons in the US. It raises the risk of thrombosis significantly for both males and females in all age groups. Prothrombin mutation G20210A gives rise to slowed mRNA degradation and to an increase in circulating prothrombin levels. This appears to create a hypercoagulable state. The prothrombin gene mutation can be inherited from one or both parents. This means that if one parent has it, then each child has a 50:50 chance of inheriting it. Most people with the prothrombin gene change have inherited one copy of the abnormal prothrombin gene from one parent. It is caused by a cha nge or mutation in the gene for the blood clotting protein called prothrombin (which is also called Factor II). People with the prothrombin gene mutation have higher than normal levels of prothrombin in their blood, making them prone to blood clots, most common in the veins. Many people with the prothrombin mutation may never develop a blood clot in their lifetime. People who have the prothrombin mutation and develop a blood clot often have other risk factors that increase their chances of getting a blood clot. Most research studies show that prothrombin gene mutations do not. increase risk for heart attack and stroke in middle-aged and elderly. people. 1. Heterozygous: Signs of DVT • You have inherited one copy of the prothrombin gene mutation, from one parent. The other copy of the prothrombin gene, inherited from your other parent, is normal. 2. Homozygous: • You have inherited two copies of the prothrombin gene mutation, one from each parent.
http://www.medicinenet.com/script/main/art.asp?articlekey=5089 http://www.healthcare.uiowa.edu/labs/lentz/Information_For_Patients/PDF/Prothrombin%20Gene%20Mutation%20Brochure.pdf http://www.medicinenet.com/script/main/art.asp?articlekey=31175 http://www.thefreedictionary.com/prothrombin https://en.wikipedia.org/wiki/Prothrombin_G20210A http://www.healthcare.uiowa.edu/labs/lentz/Information_For_Patients/PDF/Prothrombin%20Gene%20Mutation%20Brochure.pdf https://en.wikipedia.org/wiki/Prothrombin_G20210A http://www.medicinenet.com/script/main/art.asp?articlekey=31175 http://www.healthcare.uiowa.edu/labs/lentz/Information_For_Patients/PDF/Prothrombin%20Gene%20Mutation%20Brochure.pdf http://hamiltonhealthsciences.ca/documents/Patient%20Education/ProthrombinGeneMutation%2Dlw.pdf
definition of prothrombin gene mutation