Incidence assessment of MTHFR C677T and A1298C polymorphisms in Iranian non-syndromic cleft lip and/or palate patients

Journal of Dental Research, Dental Clinics, Dental Prospects

Tayyebeh Khoshbakht³  Hamid Reza Khorramkhorshid⁶  Asghar Ebadifar¹  Nazila Ameli⁵  Kourosh Kamali²  Mehdi Salehi Zeinabadi⁴ 

[1] Shahid Beheshti University of Medical Sciences;Reproductive Biotechnology Research Center, Avicenna Research Institute, ACECR, Tehran, Iran;MSC, Genetic Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran;Postgraduate student of Pediatric Dentistry, Shahed Dental School, Tehran, Iran 5Reproductive Biotechnology Research Center, Avicenna Research Institute, ACECR, Tehran, Iran;Postgraduate student of Orthodontics, Dental School, Shahid Beheshti University of Medical Sciences, Tehran, Iran;Professor, Genetic Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran

关键词: A1298C;    C677T;    methylenetetrahydrofolate reductase;    orofacial cleft;    polymorphism;   

DOI  :  

学科分类：农业科学（综合）

来源: Tabriz University of Medical Sciences * Faculty of Dentistry

【 摘 要 】

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 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.

【 授权许可】

Unknown