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 C677T polymorphism is one of the most controversial enzyme in CL/P. Our aim was comparison of MTHFR C677T polymorphism in non syndromic CL/P patients with their healthy relatives.
Materials and methods: We examined 50 consecutive CL/P patients and 150 their relatives (father, mother and sibling). Blood samples of all cases were collected. DNA extracted using Millers salting out method, and then C677T of MTHFR gene was evaluated by PCR. The results were analysis by Mc-Nemar test with spss19.
Results: The frequency of genotype in patients compared with their mother (p= 0.282), father (p= 0.423) and sibling (p=0.607) 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=1.000), father (p=0.405) and sibling (p= 0.804).
Conclusion: In this case-control study, patient’s parents and sibling were used as controls. Frequency of normal allele C677T(C) was higher than altered allele (T) in patients and control groups. We did not find any relation between NSCL/P and C677T polymorphism however; conflicting results have been achieved in different studies.