C677T Polymorphism of Methylenetetrahydrofolate Reductase Gene

The MTHFR gene has been mapped to the chromosomal region 1p36.3 and is composed of 11 exons 26 . A common mutation of the MTHFR gene is the C to T transition, located at nucleotide 677 C677T . This results in the amino acid change alanine to valine. This mutation is associated with increased thermolability and reduced specific activity of the enzyme mean activity is 65 in the Ala Val heterozygote and 30 in the Val Val homozygous state, respectively compared to the mean activity in the Ala Ala...