ISSN : 2663-2187

Molecular Detection of Five Types of Thalassemia Mutations among Patients with Β-Thalassemia in Northern Basrah Regions Using ARMS-PCR Technology

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Eman Salah Jemaa, Hasna Amir Mohaus
» doi: 10.33472/AFJBS.6.1.2024.20-29

Abstract

ARMS-PCR technology has been employed for the examination of genetic mutations associated with hematological disorders. In all instances where ARMS-PCR reactions were deemed successful, an output of 861 base pairs was identified, serving as a reliable indicator of reaction success during gel electrophoresis. The ARMS-PCR products were closely monitored and analyzed under both normal and mutated conditions. The product lengths exhibited variability depending on the specific mutation type and its location. For the IVS-I-5(G-to-C) mutation, the ARMS-PCR assay yielded a 285-base pair output, confirming the presence of this mutation in one male thalassemia sample. In the case of Codon 8/9 (₊G), the ARMS-PCR generated a 225-base pair output, and this mutation was identified in two male thalassemia samples. For the Codon 41/42 mutation (-TTCT), an ARMS-PCR output of 439 base pairs was observed, and this mutation was detected in one male thalassemia sample. As for the Codon 30(G-to-C) mutation, no ARMS-PCR output was detected, indicating its absence in the studied samples. Finally, the Codon 8 mutation (-AA) produced an ARMS-PCR output of 255 base pairs. Although this mutation was observed in the study, it was not detected in the samples under investigation. Aim: The study aims to diagnose five types of mutations that cause beta-thalassemia in the northern areas of Basra. Material and Methods: Blood samples were obtained from intravenous injections of patients using a single-use syringe (5 ml) placed in EDTA tubes that prevent blood clots and kept in deep freeze (-20οC) until use in genetic detection. The genomic DNA was isolated from the blood completely using a extraction kit and is done according to the manufacturer's instructions (Geneaid,USA). Results: The three mutations (IVS-I-5(G-to-C), Codon 8/9 (₊G), and Codon 41/42 were found in the studied samples, while the two mutations (Codon 8(-AA) and Codon 30(G-to-C) were not found in the studied samples. Conclusion: This study has provided valuable insights into the presence of genetic mutations responsible for blood disorders in the examined samples. These findings contribute significantly to our comprehension of the etiology of these diseases and the development of diagnostic and therapeutic approaches

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