MTHFR Polymorphism Kit: A Comprehensive Guide

In the rapidly advancing world of genetics, pinpointing specific gene polymorphisms can be a game-changer in the diagnostic field. Enter the Imegen® MTHFR Polymorphism Kit, an assay designed to determine the presence of both the pathogenic allele traditionally labeled as c.677C>T (NM_005957.4: c.665C>T) and the normal allele of the MTHFR gene in a single Polymerase Chain Reaction (PCR) cycle.

Why is this Kit Significant?

The MTHFR gene, located on the chromosomal region 1p36.22, plays a crucial role in human health. It is responsible for producing the enzyme methylenetetrahydrofolate reductase, which is essential for processing vitamin folate or vitamin B9. This vitamin is a prerequisite for synthesizing the amino acid methionine, the primary building block of proteins.

A polymorphism in this gene, specifically the c.677C>T variation, can lead to a version of the enzyme with reduced activity. This diminished activity has been linked to an increased risk of developmental defects in the brain and spinal cord, like anencephaly and spina bifida. Additionally, there are associations with other conditions, such as homocystinuria, an elevated risk of vascular problems, heart complications, and apoplexy. All these conditions often display elevated blood homocysteine levels, a cosubstrate of methionine remethylation.

Key Features of the Kit

1. Efficacy: The kit employs a system of sequence-specific oligonucleotides coupled with fluorescent hydrolysis probes to discern specific targets of interest.
2. Positive Control: An essential feature is the inclusion of a heterozygous genotype-simulating positive control. This ensures the PCR system’s functionality and assists in interpreting the qualitative analysis.
3. Compatibility: The kit can be analyzed using the same real-time PCR program as products associated with coagulation process alterations, offering combined processing for labs involved in broader diagnostic procedures.
4. High Standards: Adhering to quality requirements as per ISO 13485 and ISO 14001, the kit ensures the materials utilized in its manufacture are of the highest standard.
5. In-depth Analysis: Only a small sample is needed for in-depth analysis. From a peripheral blood (germinal) sample, 50 ng of DNA is extracted, and within 1h 45 min (30 min manual working and 1h 15 min PCR program duration), the test can determine the presence of the pathogenic and normal allele.
6. User-friendly: Designed for in vitro diagnostic use, this kit is aimed at professionals in the molecular biology domain.

Conclusion

With the increasing understanding of the MTHFR gene’s significance and the associated risks with its polymorphism, the Imegen® MTHFR Polymorphism Kit stands out as a vital tool in the world of molecular diagnostics. By offering a reliable, efficient, and compatible solution, it plays a crucial role in advancing our understanding and management of genetic-based health issues.