Author/Authors :
Ebadifar، Asghar نويسنده Dentofacial Deformities Research Center, Research Institute of Dental Sciences,Shahid Behehsti University of Medical Sciences,Tehran,Iran , , Ameli، Nazila نويسنده Dental School,Semnan University of Medical Sciences,Semnan,Iran , , Khorramkhorshid، Hamid Reza نويسنده Genetic Research Centre,,University of Social Welfare and Rehabilitation Sciences,Tehran,Iran , , Salehi Zeinabadi4، Mehdi نويسنده Dental School,Department of Pediatric Dentistry,Semnan university of Medical Sciences,Semnan,Iran , , Kamali، Kourosh نويسنده Reproductive Biotechnology Research Center, Avicenna Research Institute,Academic Center for Education, Culture and Research (ACECR),Tehran,Iran (Islamic Republic Of) , , Khoshbakht، Tayyebeh نويسنده Genetic Research Centre,University of Social Welfare and Rehabilitation Sciences,Tehran,Iran ,
Abstract :
Background and aims. The aim of the present study is to determine the incidence of MTHFR C677 T and A1298C mutations in Iranian patients with cleft lip and/or cleft palate.Materials and methods. We screened 61 Iranian patients with cleft lip and/or cleft palate for mutations in the two alleles of MTHFR gene associated with cleft lip and/or palate: A1298C and C677T, using Polymerase Chain Reaction following by RFLP.Results. The 677T and 1298C homozygote genotypes showed a frequencyof 36.1% and 11.4%, respectively. Combined genotype frequencies in newborns having oral clefts showed that the highest genotype was 677TT/1298AA (22.9%)and 677TT/1298CC genotypes were not observed.Conclusion. The results showed that 65.6% of all patients had at least one T mutant allele in C677T and 58.9% C mutant allele for A1298C. According to the frequencies of homozygosity of mutant alleles, it could be said that MTHFRgenotype of 677TT shows a greater role in having oral clefts.
Keywords :
A1298C , C677T , Methylenetetrahydrofolate reductase , Orofacial cleft , Polymorphism
