TY - JOUR
T1 - Identification of Single Nucleotide Polymorphism Gen MTHFR C677T in Non-Syndromic Cleft Lip and/or Palate
AU - Sosiawan, Agung
AU - Kurniati, Mala
AU - Nuraini, Indah
AU - A’yun, Qurrota
AU - Danudiningrat, Raden Mas Coen Pramono
AU - Mulyawan, Indra
AU - Iskandar, Regina Purnama Dewi
AU - Hassan, Rozita
N1 - Funding Information:
This study was funded by Directorate of Research and Community Services, Deputy of Research and Development Reinforcement, Ministry of Research and Technology/ National Agency for Research and Innovation, Republic of Indonesia (No. 302/UN3.15/PT/2021). The authors were grateful of the support of Bima Hospital in West Nusa Tenggara, Indonesia and Nahdlatul Ulama Hospital in Tuban, Indonesia. All authors have made substantive contribution to this study and/or manuscript, and all have reviewed the final paper prior to its submission.
Publisher Copyright:
© 2022,Journal of International Dental and Medical Research. All Rights Reserved.
PY - 2022
Y1 - 2022
N2 - 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.
AB - 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.
KW - Cleft lip and/or palate
KW - Medicine.
KW - Methylenetetrahydrofolate reductase
KW - Single nucleotide polymorphism
UR - http://www.scopus.com/inward/record.url?scp=85145864903&partnerID=8YFLogxK
M3 - Article
AN - SCOPUS:85145864903
SN - 1309-100X
VL - 15
SP - 1620
EP - 1624
JO - Journal of International Dental and Medical Research
JF - Journal of International Dental and Medical Research
IS - 4
ER -