Incidence Assessment of MTHFR C677T and A1298C Polymorphisms in Iranian Non-syndromic Cleft Lip and/or Palate Patients

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.