title: Incidence Assessment of MTHFR C677T and A1298C Polymorphisms in Iranian Non-syndromic Cleft Lip and/or Palate Patients.
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 MTHFR genotype of 677TT shows a greater role in having oral clefts.
authors.affiliation: Associate Professor, Dentofacial Deformities Research Center, Research Institute of Dental Sciences, Shahid Behehsti University of Medical Sciences, Tehran, Iran.
authors.forename: Asghar
authors.initials: A
authors.lastname: Ebadifar
authors.affiliation: Assistant Professor of Orthodontics, Dental School, Semnan University of Medical Sciences, Semnan, Iran.
authors.forename: Nazila
authors.initials: N
authors.lastname: Ameli
authors.affiliation: Professor, Genetic Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors.forename: Hamid Reza
authors.initials: HR
authors.lastname: Khorramkhorshid
authors.affiliation: Assistant Professor of Pediatric Dentistry, Dental School, Semnan university of Medical Sciences, Semnan, Iran.
authors.forename: Mehdi
authors.initials: M
authors.lastname: Salehi Zeinabadi4
authors.affiliation: Reproductive Biotechnology Research Center, Avicenna Research Institute, ACECR, Tehran, Iran.
authors.forename: Kourosh
authors.initials: K
authors.lastname: Kamali
authors.affiliation: MSC, Genetic Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors.forename: Tayyebeh
authors.initials: T
authors.lastname: Khoshbakht
keywords: A1298C; C677T; methylenetetrahydrofolate reductase; orofacial cleft; polymorphism.