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J Dent Res Dent Clin Dent Prospects. 2015 Spring;9(2):101-4. doi: 10.15171/joddd.2015.020. Epub 2015 Jun 10.

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

Author information

1
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 MTHFR genotype of 677TT shows a greater role in having oral clefts.

KEYWORDS:

A1298C; C677T; methylenetetrahydrofolate reductase; orofacial cleft; polymorphism.

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