Methyltetrahydrofolate reductase (MTHFR) mutations in healthy individuals in Ninavah Province, Iraq

Abstract

Methyltetrahydrofolate reductase (MTHFR) is an enzyme encoded by the MTHFR gene, it plays an important role in homocysteine metabolism, and so genetic mutations of this enzyme cause a reduction in enzymatic activity and hyperhomocysteinemia. One of the most common MTHFR gene mutations is C677T. This study is aimed to determine the frequency distribution of (C677T) MTHFR mutation in healthy subjects from Ninavah Province -Iraq. The sample of this study includes 150 randomly selected apparently healthy subjects who are attending pre-marriage screening center in Mosul for routine pre-marriage checking. DNA was isolated from the blood samples of all subjects and investigation for MTHFR (C677T) gene polymorphism was done by the polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) of a genomic DNA fragment at nucleotide 677. The most frequently observed MTHFR genotype was Wild CC 65.3%, followed by Heterozygous CT 28.0%, and, Homozygous TT had the lowest frequency of 6.7%. No significant association was found between genotype and sex. In conclusion, we have defined the frequency distribution of (C677T) MTHFR gene mutation in the healthy subjects from Ninavah Province/Iraq. These results could be of help in genome association studies and in the clinical encounter.