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MTHFR (C677T) PCR Assay

Details for Product No. ABIN2648747, Supplier: Log in to see
Application
Polymerase Chain Reaction (PCR)
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Purpose MutaGEL® MTHFR kit allows the detection of the most common C677T polymorphism of the human MTHFR gene encoding for the enzyme 5,10-methylene-tetrahydrofolatereductase. This mutation causes the substitution of alanine with valine within the enzyme (Ala 222 Val).
Brand MutaGEL®
Sample Type DNA
Characteristics Hyperhomocysteinemia is the result of a disturbed homocysteine metabolism often due to genetic defects. The increase of homocysteine plasma level is therefore a risk factor for cardio- or cerebrovascular complications as well as for venous thrombosis and mirgaine. Patients often carry the very common C677T mutation in the MTHFR gene coding for a thermolabile variant of the MTHFR enzyme with reduced activity. Also an A1298C mutation in the MTHFR gene increases the homocysteine plasma level additionally, but only in case of already present C677T heterozygotie. Nevertheless, it could be an option to analyse also this polymorphism in a separate PCR to determine complete genetic risk factors for hyperhomocysteinemia.
Comment

MutaGEL® MTHFR PCR Assay Kit contains a set of primers which amplify a specific sequence within the human MTHFR gene. The amplified product obtained from a wild type DNA will not be cut by the restriction enzyme included in this kit, whereas the fragment obtained from DNA carrying the very common C677T- mutation will be cut once. The generated amplification products and their cut-fragments are analyzed through gel electrophoresis.

Sample Volume 200 μL
Restrictions For Research Use only
Storage -20 °C