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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
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.
MTHFR Master Mix: Contains specific oligonucleotides, labeled probes, and water reagents for the PCR reactions.
General Master Mix: A mix that contains 10-30% glycerol, <0.1 sodium azide, and buffers.
Positive Control: Heterozygous control specifically for the c.677C>T mutation in the MTHFR gene