gb HEMO MTHFR (A1298C)
allelic discrimination, real-time PCR
The kit is intended for detection of mutation A1298C in MTHFR gene in human genomic DNA. Detection is based on real-time polymerase chain reaction (qPCR) using fluorescently labelled probes (allelic discrimination).
Methylenetetrahydrofolate reductase (MTHFR) is the main egulatory enzyme involved in homocysteine and folic acid (folates) metabolisms. This mutation leads to enzyme activity reduction, increase of homocysteine level in blood and methionine deficiency. However, lower catalytic activity of MTHFR enzyme means higher utilisation of 5, 10-methylenetetrahydrofolate in DNA synthesis or repair.
The risk of venous thrombosis increases in combination with other risk factors (e.g. mutation in MTHFR gene – C677T, mutation G20210A in factor II, Leiden mutation, long-time immobility, incorrect regimen, hormonal contraception) and grows with the number of mutated alleles in genotype.
Parameters of the diagnostic kit
- ready-to-use assay
- sample concentration 1-100 ng/µl
- positive and negative controls included
- FAM and HEX channels detection
- identical amplification profile as gb HEMO, gb GENETIC, gb PHARM kits
ABI 7500/7500 Fast (ABI)
ABI 7900HT (ABI)
AriaMx (Agilent Technologies)
iCycler iQ5 (Bio-Rad)
Light Cycler 480/Cobas z480 (Roche Diagnostics)
RG 3000 (Corbett Research)
RG 6000/Q (Corbett Research/Qiagen)
Stratagene Mx3000P/Mx30005P (Agilent Technologies)