Detection of MTHFR C677T Genotyping for Spina Bifida Defects using ARMS-PCR Technique
DOI:
https://doi.org/10.21123/bsj.2024.9958Keywords:
Genotyping, Methylenetetrahydrofolatereductase, Neural tube defect, Spine bifida, Tetra primer ARMS PCR technique.Abstract
Neural tube defects (NTDs) are complex structural deformities in newborn infants. These defects are caused by a blend of genetic and environmental factors in the abnormal phenotype. The current study aims to determine the genetic variation polymorphism for methylenetetrahydrofolate reductase (MTHFR) C677T rs180133 genotyping and to detect single nucleotide polymorphisms (SNPs) in a DNA sample of Spinal Bifida (SB) and compare it with control newborn children. Blood samples were collected from newborns (50 children under one year old) (25 cases of spinal bifida (SB) and 25 controls). The DNA was extracted and amplified by the tetra ARMS-PCR technique (Amplification Refractory Mutation System Polymerase Chain Reaction). ARMS-PCR technique consists of four primers (two outer and two inner) to amplify target DNA sequences for different genotypes for the distribution of the genetic variation of MTHFR genotyping of different genotypes (wild-type (CC) and mutant-type (TT) alleles). The results indicate that the genetic mutation of the enzyme tetrahydrofolate reductase was associated with spina bifida in newborns and could serve as a biomarker to detect the development of spina bifida in newborns.
Received 15/10/2023
Revised 29/04/2024
Accepted 01/04/2024
Published Online First 20/11/2024
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