Mutations in MTHFR gene are the most common genetic cause of hyperhomocysteinaemia. A mutation in the coding region of MTHFR gene, at position 677(MTHFR C677T) is responsible for the increase of homocysteine in bloodstream.
This change in the gene sequence, results in the substitution of valine for alanine in the catalytic domain of the enzyme (codon 222) resulting in an enzyme thermolabile and less active.
This kit contains typing strips with dried primers mixes and PCR Master Mix for typing of polymorphism C677T of MTHFR gene. |
