Incidence Assessment of MTHFR C677T and A1298C Polymorphisms in Iranian Non-syndromic Cleft Lip and/or Palate Patients.
Incidence Assessment of MTHFR C677T and A1298C Polymorphisms in Iranian Non-syndromic Cleft Lip and/or Palate Patients.
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DOI：
10.15171/joddd.2015.020
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发表时间：
2015
期刊：
影响因子：
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通讯作者：
Khoshbakht T
中科院分区：
文献类型：
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作者：
Ebadifar A;Ameli N;Khorramkhorshid HR;Salehi Zeinabadi4 M;Kamali K;Khoshbakht T
背景和目标。本研究的目的是确定MTHFR C677 T和A1298 C突变在伊朗唇腭裂患者中的发生率。材料和方法。我们筛选了61例伊朗唇腭裂患者的MTHFR基因的两个等位基因突变与唇腭裂：A1298 C和C677 T，使用聚合酶链反应，然后限制性片段长度多态性。结果677 T和1298 C纯合子基因型频率分别为36.1%和11.4%。结果显示：677 TT/1298 AA基因型频率最高（22.9%），未发现677 TT/1298 CC基因型。结论结果表明，65.6%的患者至少有一个T突变等位基因的C677 T和58.9%的C突变等位基因的A1298 C。根据突变等位基因的纯合性频率，可以说677 TT的MTHFR基因型在发生口裂中表现出更大的作用。
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.