Screening of C677T polymorphism in the methylenetetrahydrofolate reductase gene in Anbar, Iraqi patients with β-thalassemia major

Abstract

The synthesis of proteins, DNA, and RNA as well as the metabolism of methionine and folate, depend on the enzyme MTHFR, a crucial regulator of the one-carbon cycle.  This enzyme is necessary for the remethylation of homocysteine to methionine and transforms 5,10-methylenetetrahydrofolate into its active form, 5-methyltetrahydrofolate. Determining the degree of polymorphism in the gene for the enzyme methylenetetrahydrofolate reductase (MTHFR) in patients with beta-thalassemia major and comparing it to the control group, as well as sequencing, analyzing, and detecting mutations in the DNA nucleotides of the gene for the enzyme MTHFR, were the objectives of the study. 90 samples were taken from patients at the Al-Ramadi Teaching Hospital for Women and Children, both male and female. The study included 60 samples of individuals with β-thalassaemia major. The patients were between the ages of 3 and 52. The control sample consisted of 30 samples of each sex, ages ranging from 16 to 65. For every sample in the investigation, the MTHFR C677T gene band was amplified using the polymerase chain reaction (PCR).  When compared to the 100 bp marker, all samples had a band size of 198 bp. The CHROMAS was used to examine the sequence data.  The BLAST SEARCH tool was used to record the data, which had the same gene, C677T, between 9800 and 9930, and showed no alterations from the reference gene (NG_013351). These findings show that the participants in this research were wild type for this location, meaning they did not carry the C677T mutation