Description

The altered MTHFR is known as “Thermolabile MTHFR”. Homozygous and heterozygous carriers of these mutations both show reduced MTHFR activity. In particular, homozygous carriers suffer from significantly increased blood levels of homocysteine. In general, increased homocysteine levels are considered a risk factor of vascular diseases (e.g. arterial thrombosis)5. C677T mutation in its homozygous form alone or as a compound heterozygote, which involves both C677T and an A1298C condition (where an Adenine (A) residue changes to a Cytosine (C) residue at the 1298th position) lead to the disruption of the MTHFR gene and causes a drastic reduction of the MTHFR enzyme. This in turn, leads to an elevation of Homocysteine in the blood. This reaction system contains dUTP-UDG enzyme anti-pollution measures to avoid false positive results; an internal standard is provided to avoid false negative results.

Intended Use:
This kit is used for qualitative detection of the MTHFR gene. MTHFR 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. The risk of vascular disease is increased. On the other hand, it leads to folic acid metabolism disorders, which greatly increases the risk of fetal neural tube defects in the first trimester. The test results of this kit provide auxiliary diagnosis for high-risk groups with low activity of methylenetetrahydrofolate reductase.

Material of construction:
• Specific primer
• Specific probe
• Enzymes
• Molecular-grade water