MTHFR C677T
Code
EER039032
CE MarkEER039032
Tests

32 Tests - C677T

Available for QiaSymphony SP/AS - Ref: EER029032QS

MTHFR C677T

DuplicαRealTime Mix & Match MTHFR C677T Kit is an in vitro diagnostic test for the detection of the nucleotide substitution C677T (allelic variant g.14783C>T) of 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 C677T (rs1801133) and A1298C (rs1801131) single nucleotide polymorphisms (SNP). The MTHFR nucleotide at position 677 in the gene has two possibilities: C (cytosine) or T (thymine). C at position 677 (leading to an alanine at amino acid 222) is the normal allele. The 677T allele (leading to a valine substitution at amino acid 222) encodes a thermolabile enzyme with reduced activity. The degree of enzyme thermolability (assessed as residual activity after heat inactivation) is much greater in 677TT individuals (18-22%) compared with 677CT (56%) and 677CC (66-67%). Individuals of 677TT are predisposed to mild hyperhomocysteinemia (high blood homocysteine levels), because they have less active MTHFR available to produce 5-methyltetrahydrofolate (which is used to decrease homocysteine). Low dietary intake of the vitamin folic acid can also cause mild hyperhomocysteinemia. 

Targets:

  • Nucleotide substitution C677T (allelic variant g.14783C>T) of MTHFR C677T 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.

 

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