MTHFR A1298C
Code
EER040032
CE MarkEER040032
Tests

32 Tests - A1298C

Available for QiaSymphony SP/AS - Ref: EER030032QS

MTHFR A1298C

DuplicαRealTime Mix & Match MTHFR A1298C Kit is an in vitro diagnostic test for the detection of the nucleotide substitution A1298C (allelic variant g.11796321G>A) of the MTHFR gene​, by Real-Time PCR.

 

Overview

Methylenetetrahydrofolate reductase (MTHFR) is the rate-limiting enzyme in the methyl cycle, and it is encoded by the MTHFR gene. Methylenetetrahydrofolate reductase catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a cosubstrate for homocysteine remethylation to methionine. Genetic variation in this gene may influence susceptibility to occlusive vascular disease, neural tube defects, dementia, colon cancer, and acute leukemia. The enzyme is coded by the gene with the symbol MTHFR on chromosome 1 location p36.3 in humans. There are DNA sequence variants (genetic polymorphisms) associated with this gene. In a report brought the number of polymorphisms up to 24. Two of the most investigated are A1298C (rs1801133) and A1298C (rs1801131) single nucleotide polymorphisms (SNP). At nucleotide 1298 of the MTHFR, there are two possibilities: A or C. 1298A (leading to a Glu at amino acid 429) is the most common while 1298C (leading to an Ala substitution at amino acid 429) is less common. 1298AA is the "normal" homozygous, 1298AC the heterozygous, and 1298CC the homozygous for the "variant". In studies of human recombinant MTHFR, the protein encoded by 1298C cannot be distinguished from 1298A in terms of activity, thermolability, FAD release, or the protective effect of 5-methyl-THF. The C mutation does not appear to affect the MTHFR protein. It does not result in thermolabile MTHFR and does not appear to affect homocysteine levels

Targets:

  • nucleotide substitution A1298C (allelic variant g.11796321G>A) of the MTHFR A1298C gene 
  • Internal Control (IC)

Diagnostic samples:

  •  Peripheral whole blood samples collected in EDTA

DNA Extraction:

  • Compatible with the most common DNA Extraction and Purification Systems

Real-Time PCR instruments:

  • Compatible with the most common Real-Time PCR Systems

Clonit DuplicaRealTime Mix & Match kits belong to the CardioVascular Diseases panel – CVD Panel. Their protocols can be automated on QiaSymphony SP/AS (Qiagen)  and share the same thermal profile.