MTHFR C۶۷۷T Polymorphisms in Non-syndromic Cleft Lip with or without Cleft Palate Patients

Background and aim: The etiology of CL/P is thought to be multifactorial with both genetic and environmental factors. Methylentetrahydrofolatereductuse (MTHFR), an important enzyme in folic acid metabolism with C۶۷۷T polymorphism is one of the most controversial enzyme in CL/P. Our aim was comparison of MTHFR C۶۷۷T polymorphism in non syndromic CL/P patients with their healthy relatives.Materials and methods: We examined ۵۰ consecutive CL/P patients and ۱۵۰ their relatives (father, mother and sibling). Blood samples of all cases were collected. DNA extracted using Millers salting out method, and then C۶۷۷T of MTHFR gene was evaluated by PCR. The results were analysis by Mc-Nemar test with spss۱۹. Results: The frequency of genotype in patients compared with their mother (p= ۰.۲۸۲), father (p= ۰.۴۲۳) and sibling (p=۰.۶۰۷) and we didn’t find significant different between them. Also there was no significant difference between patient’s allele frequency when compared with their mother (p=۱.۰۰۰), father (p=۰.۴۰۵) and sibling (p= ۰.۸۰۴). Conclusion: In this case-control study, patient’s parents and sibling were used as controls. Frequency of normal allele C۶۷۷T(C) was higher than altered allele (T) in patients and control groups. We did not find any relation between NSCL/P and C۶۷۷T polymorphism however; conflicting results have been achieved in different studies.

Keywords:

MTHFR , Non syndromic cleft lip with or without palate , Polymorphism