Description: 5,10-methylenetetrahydrofolate reductase enzyme, encoded by MTHFR gene, catalyzes the reduction of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. The MTHFR C677T polymorphism results in the amino acid change from Ala to Val. The Val allele is associated with decreased enzyme activity and low tetrahydrofolate concentrations. The reduced enzyme activity is involved in homocysteinemie, an important risk factor for thrombotic disease.
The presence of MTHFR C677T polymorphism can be investigated in the polyabortivity screening and it is associated with outcome of 5 FU treatment in Coloretal Cancer chemotherapy.
The MTHFR C677T HRM kit represents an alternative PCR-based approach for the detection of the cited polymorphism, suitable for a relatively inexpensive screening of several samples, reducing the turnaround time and the workload. Focused on the melting curve analysis obtained with a high resolution melt (HRM) system, it can be applied to the analysis and discrimination of more than one amplicon with the same reaction in the same run; today HRM is the most cost-efficient method for SNP identification. This kit provides genotype controls to compare results from unknown samples and performs 42 tests in two separated runs.
References:
Victor Cohen et al. Methylenetetrahydrofolate Reductase Polymorphism in Advanced Colorectal Cancer: A Novel Genomic Predictor of Clinical Response to Fluoropyrimidine-based Chemotherapy1. Clinical Cancer Research 1611.
Fernández-Peralta AM et al. Association of polymorphisms MTHFR C677T and A1298C with risk of colorectal cancer, genetic and epigenetic characteristic of tumors, and response to chemotherapy. Int J Colorectal Dis. 2010.
Paola Terrazzi et al. Homocysteine, MTHFR C677T gene polymorphism, folic acid and vitamin B 12 in patients with retinal vein occlusion. Thrombosis Journal 2005.