TRUPCR® MTHFR Mutation (C677T) Kit
The N5,N10-methylenetetrahydrofolate reductase (MTHFR) is an enzyme that plays an important role in the metabolization of the amino acid methionine. A genetic polymorphism commonly associated with severe MTHFR deficiency is defined by a C to T substitution (cytosine to thymine) at position 677 (C677T) of the MTHFR gene, which leads to the incorporation of amino acid alanine (A) instead of valine (V) at position 222 of the MTHFR protein. The altered MTHFR is known as “Thermolabile MTHFR”. TRUPCR® Coagulation Panel Kit is an allelic discrimination real-time polymerase chain reaction (PCR) assay for qualitative detection of the mutation against a background of wild-type genomic DNA. In an allelic discrimination, two different probes specific for each allele are included in the PCR assay. Each probe is labeled with a different fluorescent dye (such as FAM or HEX/VIC) at its 5’ end and contains a non fluorescent quencher at the 3’ end. During qPCR amplification of the target DNA the probes will compete for binding across the variant region.