Determination of MTHFR C677T polymorphism in Turkish patients with nonsyndromic cleft lip and palate

Cleft lip and palate is a common craniofacial malformation with a birth incidence of between 1 in 700 to 1 in 1000. They occur the result of interaction of both genetic and environmental factors. There are two types of cleft lip and palate: nonsyndromic and syndromic. There are several genes responsible for the emergence of nonsyndromic cleft lip and palate. One of these genes is the methylenetetrahydrofolate reductase (MTHFR) gene. MTHFR gene is required for the metabolism of homocysteine. Metabolism of homocysteine begins with the intake of folic acid through diet. Folic acid catalyzes that reduce to tetrahydrofolate which is active form of 5,10- methylenetetrahydrofolate and also it plays role in the biosynthesis of purines and pirimidines, therefore, folic acid is important for the expression of several genes essential for cellular multiplication and differentiation during embryogenesis.Purpose of this thesis study, identification of MTHFR C677T polymorphism in Turkish Patients with Nonsyndromic Cleft lip and/or Palate and determination the frequency of the Turkish population.Blood samples which used in this study were obtained from Turkish patients with non- syndromic cleft lip and/ or palate that admitted to Ankara University Faculty of Dentistry. Blood samples from patients, after DNA isolation with phenol chloroform method, PCR and RFLP were analyzed and band images were obtainedIn this conclusion, we revealed statistically association between the MTHFR C677T gene polymorphism and nonsyndromic cleft lip and palate in the Turkish population.Key Words : Cleft lip, cleft palate, nonsyndromic cleft lip and/or palate, MTHFR gene, C677T polymorphism, PCR, RFLP, DNA isolation