Identification of Single Nucleotide Polymorphism Gen MTHFR C677T in Non-Syndromic Cleft Lip and/or Palate

Agung Sosiawan, Mala Kurniati, Indah Nuraini, Qurrota A’yun, Raden Mas Coen Pramono Danudiningrat, Indra Mulyawan, Regina Purnama Dewi Iskandar, Rozita Hassan

Research output: Contribution to journalArticlepeer-review


Cleft lip/palate (CL/P) is considered to be the most common congenital abnormality caused by genetic and environmental factors. Certain genes related to CL/Ps have been identified and explored to determine their etiology. One of the most influential genes in the pathogenesis of CL/P is methylenetetrahydrofolate reductase (MTHFR) gene. Polymorphism of MTHFR gene impair craniofacial development during first trimester of pregnancy. This study aims to identify the single nucleotide polymorphism (SNP) C6777T of the MTHFR gene in non-syndromic CL/P patients. DNA samples were obtained from 30 non-syndromic CL/P patients. The Deoxyribonucleic acid (DNA) was amplified for Polymerase Chain Reaction (PCR) examination. Electrophoresis was performed on agarose gel to visualize PCR product, and sequencing was conducted on three specimens. The polymorphism of MTHFR C677T was examined using Restriction Fragment Length Polymorphisms (RFLP) technique. Based on analysis using restriction enzyme and bioinformatic software, cytosine was substituted into thymine in nucleotide 222 on exon 4. Valin was synthesized instead of alanine. Genotype CC was found in 22 patients (73%) and genotype CT in eight patients (73%), while the mutant homozygote TT was not found in this study.

Original languageEnglish
Pages (from-to)1620-1624
Number of pages5
JournalJournal of International Dental and Medical Research
Issue number4
Publication statusPublished - 2022


  • Cleft lip and/or palate
  • Medicine.
  • Methylenetetrahydrofolate reductase
  • Single nucleotide polymorphism


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