Association of the 677C -> T mutation on the methylenetetrahydrofolate reductase gene in turkish patients with neural tube defects

We report the analysis of the 677C-->T mutation on the 5, 10-methylenetetra hydrofolate reductase gene in Turkish controls and cases:of neural tube def ects. Mutation analysis of 91 patients with neural tube defects, 72 mothers , 63 fathers, and 93 healthy controls has been made by polymerase chain rea ction and allele specific restriction digestion with HinfI. We did not fmd a significant difference in the 677C-->T allele and genotype distribution a mong the patients with neural tube defects, their parents, and the control group. This result suggests that another mutation in the folate-related enz yme genes could be responsible for neural tube defects in Turkey. None of t he mothers of patients with neural tube defects was advised to use folic ac id as recommended to prevent neural tube defects. An immediate attempt to e stablish an education program for healthcare providers and women of childbe aring age is crucial in Turkey. Furthermore, fortification of foods with fo late would be a better approach.