Polymorphisms in the MTHFR gene

Folic acid, also known as vitamin B9, is a compound essential for proper functioning of the nervous system and brain. It is also one of the factors determining a wellbeing – low level of folic acid is associated with depression. Folic acid is involved in haematopoietic processes (it prevents anaemia) and positively influences the functioning of internal organs. Its presence is also important for the correct development of fetus. The shortage of folic acid can lead to spontaneous miscarriages, low birth weight and malformations.

Bioavailability of folic acid in human organism (its transformation to the active form) depends on the presence of methylenetetrahydrofolate reductase. When activity of this enzyme is disturbed, it promotes decrease in folic acid bioavailability by 70%, contributing to the atherosclerosis and heart diseases. Negative effects of lowered bioavailability of folic acid can be prevented by the intake of drugs containing its active form.
Transformation of folic acid to its active form (5-MTHF) is dependent on methylenetetrahydrofolate reductase, coded by the MTHFR gene. Mutations occurring within this gene can promote decrease of the enzyme activity even by two thirds.

Polymorphisms rs1801131 and rs1801133 are localized within the regulatory sequence of the MTHFR gene. This gene is responsible for folic acid metabolism. There are two allelic variants of the polymorphism rs1801131 (A and C) and two allelic variants of the polymorphism rs1801133 (C and T). The variants rs1801131(C) and rs1801133(T) encode less active methylenetetrahydrofolate reductase.

Diagnostic kit AmpliSNiP MTHFR rs1801131 (qPCR) contains two reaction mixtures (RM-A and RM-C) which enable the detection of allelic variants rs1801131(A) and rs1801131(C). Diagnostic kit AmpliSNiP MTHFR rs1801133 (qPCR)  contains two reaction mixtures (RM-C and RM-T) which enable the detection of allelic variants rs1801133(C) and rs1801133(T). The qPCR reactions are a duplex-type. The FAM channel serves to detect the sequence specific to the particular variant of the gene, whereas the second channel (HEX) serves to detect the human DNA. The kit also includes positive controls (PC) which contain both versions of the assayed polymorphisms. They enable to control the correct course of the qPCR reactions.