Mapping the MTHFR Gene to a Chromosome

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 Localization of the MTHFR gene to a chromosome was carried out using in situ hybridization.  A 1kb fragment of MTHFR cDNA that was labeled with [H3]-dTTP and [H3]-dATP was used to probe a library of peripheral blood lymphocytes containing metaphase human chromosomes.  Silver stain data gave a distribution of 200 silver grains, forty of which were clustered at 1p36.2-36.3.  Within that region, 25 of the grains were localized over 1p36.3, and thus this was determined to be location of the MTHFR gene.  (Goyette et al, 1994).  

As of this date, no information has been published on structural abnormalities in the MTHFR chromosome.   

View the location of the MTHFR gene in the human genome