Log in to see the prices.
The price above is a net price.
The MTHFR rs1801133 – C677T (qPCR) product is used for genotyping the rs1801133 polymorphism located within the human MTHFR gene encoding methylenetetrahydrofolate reductase (MTHFR). The material for analysis are DNA preparations containing human genetic material.
Kit size: 100 reactions
Reaction: allelic discrimination using Taqman probes (FAM: wild-type allele, HEX: allele carrying the C677T mutation)
Determination: qualitative/quantitative
Genome tested: human (Homo sapiens)
Kit components:
The MTHFR rs1801133 – C677T (qPCR) product is based on the Taqman probe genotyping technique. The DNA fragment surrounding the rs1801131 polymorphism is amplified by a pair of primers and detected by a pair of Taqman probes. The FAM-labeled probe is complementary to the DNA region containing guanine (wild-type allele, G allele), while the HEX-labeled probe is complementary to the DNA region containing adenine (mutant allele, A allele).
During the reaction, these probes compete with each other to bind to the template. The probe that is 100% homologous to the DNA strand binds to it preferentially over the alternative probe. As the reaction progresses, a strong signal appears for the fully homologous probe and a weak signal for the alternative probe. The genotype of the sample is determined by comparing the signal intensity ratio between the two channels (FAM and HEX). For homozygous samples, a strong signal is obtained on one channel and a weak signal on the other channel. For heterozygous samples, which contain binding sites for each probe, an intermediate signal is obtained on both channels.
The rs1801133 polymorphism results in a C->T transition at position 677 of the MTHFR mRNA. This leads to the replacement of alanine with valine at position 222 of the MTHFR protein. Hence, this polymorphism is known as C677T or A222V (Ala222Val). The replacement of glutamic acid with alanine reduces the activity of methylenetetrahydrofolate reductase. In EA heterozygotes, MTHFR activity is reduced by 27-49% compared to individuals with the EE genotype. In homozygotes, enzyme activity is reduced by approximately 68-78%.
According to the current nomenclature in the dbSNP (NCBI) database, the rs1801133 polymorphism consists of the replacement of a guanine nucleotide with an adenine nucleotide (G->A) at position 11796321 of chromosome 1. This is due to the fact that the MTHFR gene is encoded by the complementary strand of chromosome 1.
The rs1801131 polymorphism, together with the rs1801133 polymorphism, which also results in reduced MTHFR activity, has been linked to a number of disorders, including:
