MTHFR Qualitative
Real-Time PCR Kit
MTHFR Qualitative Real-Time PCR kit is a qualitative assay for the detection and differentiation of MTHFR mutations (C677T and 1298C) in human genomic DNA extracted from EDTA whole blood. LNA probes used in this assay specifically detects and differentiate wild and mutant alleles.
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SKU
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100 Rxns : NMFR24004
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50 Rxns: NMFR24004_01
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20 Rxns: NMFR24004_02
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Features & Benefits:
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Two-Tube, Multiplex, TaqMan probe-based Qualitative Real-Time PCR Assay
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RT-PCR Run Time is within 60 Minutes
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Sample Compatibility: DNA Extracted from Whole Blood
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Real-Time PCR, instruments like BIORAD - CFX96, THERMO -QS5, QIAGEN-ROTOR - GENE Q and other instruments which supports FAM (495 nm - 520 nm), HEX (535 nm - 556 nm), Cy5 (649 nm - 670 nm) and ROX (575 nm - 602 nm)."
Storage & Precautions
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Recommended Storage: -20°C
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For Professional Use only.
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Read user manual
Clinical Relevance
Methylenetetrahydrofolate reductase (MTHFR) plays a central role in folate and homocysteine metabolism by catalyzing the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, the primary circulatory form of folate which is utilized in homocysteine remethylation to methionine. Several Single Nucleotide Polymorphisms (SNPs) have been identified that affect folate and homocysteine metabolism, which in turn are implicated in the pathogenesis of Cardiovascular disease, neural tube defects, and colorectal cancers. These SNPs include MTHFR C677T, MTHFR A1298C, Methionine Synthase (MTR) A2756G and Methionine Synthase Reductase (MTRR) A66G. The common gene variants are MTHFR C677T and A1298C. In the MTHFR gene, the C677T polymorphism occurs in exon region, which involves a C to T substitution at position 677, a consequence of transformation from an alanine to a valine at codon 222 in the N-terminal catalytic domain. Individuals with the 677TT homozygous variant have no more than 30 % of normal enzyme activity, and heterozygotes CT genotype have 65% of normal enzyme activity and increased thermolability. An additional polymorphism, MTHFR A1298C, occurs in exon region resulting into the change from a glutamic acid to alanine residue at codon 429 in the C-terminal regulatory domain of the protein and decreases the enzyme activity.
