Prevalence of the C677T substitution of the methylenetetrahydrofolate reductase (MTHFR) gene in Wisconsin.

Abstract

The objective of this study was to estimate the prevalence of the C677T substitution of the MTHFR gene in the State of Wisconsin. The MTHFR genotypes of 1059 randomly selected newborns were analyzed using PCR amplification, HinfI restriction enzyme digestion, and electrophoresis. The frequency of the substitution was calculated in different genders and statistically analyzed (Chi-square). Among 1059 newborn infants, about 59% had a C/C homozygous genotype, 33% had a C/T heterozygous genotype, and the remaining 8% had a T/T homozygous genotype. The frequencies for the C and T alleles were 76% (p) and 24% (q), respectively. There were no significant differences between males and females. The study provides a fair estimate for the prevalence of the C677T substitution of the MTHFR gene in the general population in Wisconsin, which will facilitate further investigations of the pathogenic effects of the gene.