β-globin Gene Mutation Detection in Malaysia via Multiplex PCR
Journal name: The Malaysian Journal of Medical Sciences
Original article title: Detection of β-globin Gene Mutations Among β-thalassaemia Carriers and Patients in Malaysia: Application of Multiplex Amplification Refractory Mutation System–Polymerase Chain Reaction
The Malaysian Journal of Medical Sciences (MJMS) is a peer-reviewed, open-access journal published online at least six times a year. It covers all aspects of medical sciences and prioritizes high-quality research.
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Syahzuwan Hassan, Rahimah Ahmad, Zubaidah Zakaria, Zefarina Zulkafli, Wan Zaidah Abdullah
The Malaysian Journal of Medical Sciences:
(A peer-reviewed, open-access journal)
Full text available for: Detection of β-globin Gene Mutations Among β-thalassaemia Carriers and Patients in Malaysia: Application of Multiplex Amplification Refractory Mutation System–Polymerase Chain Reaction
Year: 2013
Copyright (license): CC BY 4.0
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Summary of article contents:
Introduction
β-thalassaemia is a prevalent autosomal disorder resulting from genetic deficiencies in β-globin chain synthesis, leading to severe anemia and health complications. Malaysia has a high carrier rate of approximately 4.5%, with significant mutation variability among various ethnic groups, particularly Malays and Chinese. This study aims to enhance molecular diagnostic methods for β-thalassaemia in Malaysia through a simpler and more cost-effective approach, catering to the diverse ethnic landscape which complicates traditional molecular diagnostics.
Importance of Multiplex Amplification Refractory Mutation System (MARMS)
A notable finding of this research is the development and application of the Multiplex Amplification Refractory Mutation System (MARMS), which enables the efficient screening of multiple β-globin gene mutations simultaneously. In a cohort of 208 patients, significant mutations such as Cd 41/42 (–TTCT) and Cd 26 (A–G) HbE were identified, which together accounted for the majority of detected carriers. This cost-effective and easily interpretable system proves essential for facilitating genetic counseling and screening initiatives across the Malaysian populace, ultimately striving to reduce the socio-economic burden of β-thalassaemia in the region.
Conclusion
The implementation of the MARMS technique represents a significant advancement in the molecular diagnostics of β-thalassaemia in Malaysia, demonstrating high accuracy and efficiency in identifying prevalent mutations among different ethnic groups. By leveraging these accessible and straightforward methodologies, the study aims to improve genetic counseling and disease prevention strategies for potential carriers and their families, reinforcing the importance of thorough genetic testing and pre-marital counseling in tackling this widespread health issue.
FAQ section (important questions/answers):
What is β-thalassaemia and its impact on health?
β-thalassaemia is a genetic disorder characterized by reduced synthesis of the β-globin chain in hemoglobin, leading to anemia and related health issues. It affects blood cell production, causing complications that may require extensive medical treatment.
How were the β-globin gene mutations investigated in this study?
The study employed a simple PCR technique using multiplex amplification refractory mutation system (MARMS) and amplification refractory mutation system (ARMS) to detect common mutations in β-thalassaemia carriers among different ethnic groups in Malaysia.
What were the most common mutations found in the study?
The study identified several prevalent mutations, including IVS 1–5 (G–C) and Cd 26 (G–A) HbE. These mutations were particularly frequent among different ethnic groups, indicating ethnic diversity in β-thalassaemia mutations in Malaysia.
What do the findings suggest about molecular diagnostics for β-thalassaemia?
The findings suggest that a cost-effective and easy-to-interpret molecular diagnostic system can be developed for β-thalassaemia detection. This will enhance genetic counseling and improve awareness, leading to better management of the disorder in the Malaysian population.
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Ethnic diversity, Indian subcontinent, Public health, Blood transfusion, Conflict of interest, Technical Assistance, Public Health Problem, Polymerase chain reaction, Molecular basis, Molecular characterization, Hemoglobinopathies, Electrophoresis, Real-time PCR, Mean corpuscular volume, Real-time polymerase chain reaction, Developing country, Genetic testing, Gene mutation, Ethnic group, Genetic counselling, Chinese population, Molecular analysis, Rapid detection, Prenatal Diagnosis, Gel electrophoresis, Single gene disorders, Molecular heterogeneity, Molecular diagnosis, Genomic DNA, DNA sequencing, Genomic DNA Extraction, Annealing temperature, Mean corpuscular haemoglobin, Molecular technique, Molecular defects, Internal control, Newborn screening, Homozygous, Homozygosity, PCR approach, Mutation analysis, Cost-effective screening, Common mutations, Molecular diagnostics, Genomic sequencing, Ministry of Health, Rapid identification, Indigenous population, Ethnic population, Malay population, Direct sequencing, Ministry of Health Malaysia, Direct DNA sequencing, Molecular pathology, Mutant allele, Study material, Single-strand conformation polymorphism, Oligonucleotide probes.
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