Asghar Ebadifar
1*, Nazila Ameli
2, Hamid Reza Khorramkhorshid
3, Mehdi Salehi Zeinabadi4
4, Kourosh Kamali
5, Tayyebeh Khoshbakht
61 Associate Professor, Dentofacial Deformities Research Center, Research Institute of Dental Sciences, Shahid Behehsti University of Medical Sciences, Tehran, Iran
2 Assistant Professor of Orthodontics, Dental School, Semnan University of Medical Sciences, Semnan, Iran
3 Professor, Genetic Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
4 Assistant Professor of Pediatric Dentistry, Dental School, Semnan university of Medical Sciences, Semnan, Iran
5 Reproductive Biotechnology Research Center, Avicenna Research Institute, ACECR, Tehran, Iran
6 MSC, 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 muta-tions 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 frequency of 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.