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Combine-ARMS: A Rapid and Cost-Effective Protocol for Molecular Characterization of β-Thalassemia in Malaysia
- Source :
- Genetic Testing. 5:17-22
- Publication Year :
- 2001
- Publisher :
- Mary Ann Liebert Inc, 2001.
-
Abstract
- Beta-thalassemia major patients have chronic anemia and are dependent on blood transfusions to sustain life. Molecular characterization and prenatal diagnosis of beta3-thalassemia is essential in Malaysia because about 4.5% of the population are heterozygous carriers for beta-thalassemia. The high percentage of compound heterozygosity (47.62%) found in beta-thalassemia major patients in the Thalassaemia Registry, University of Malaya Medical Centre (UMMC), Malaysia, also supports a need for rapid, economical, and sensitive protocols for the detection of beta-thalassemia mutations. Molecular characterization of beta-thalassemia mutations in Malaysia is currently carried out using ARMS, which detects a single beta-thalassemia mutation per PCR reaction. We developed and evaluated Combine amplification refractory mutation system (C-ARMS) techniques for efficient molecular detection of two to three beta-thalassemia mutations in a single PCR reaction. Three C-ARMS protocols were evaluated and established for molecular characterization of common beta-thalassemia mutations in the Malay and Chinese ethnic groups in Malaysia. Two C-ARMS protocols (cd 41-42/IVSII #654 and -29/cd 71-72) detected the beta-thalassemia mutations in 74.98% of the Chinese patients studied. The CARMS for cd 41-42/IVSII #654 detected beta-thalassemia mutations in 72% of the Chinese families. C-ARMS for cd 41-42/IVSI #5/cd 17 allowed detection of beta-thalassemia mutations in 36.53% of beta-thalassemia in the Malay patients. C-ARMS for cd 41-42/IVSI #5/cd 17 detected beta-thalassemia in 45.54% of the Chinese patients. We conclude that C-ARMS with the ability to detect two to three mutations in a single reaction provides more rapid and cost-effective protocols for beta-thalassemia prenatal diagnosis and molecular analysis programs in Malaysia.
- Subjects :
- Electrophoresis
Oncology
China
Heterozygote
congenital, hereditary, and neonatal diseases and abnormalities
medicine.medical_specialty
Pathology
DNA Mutational Analysis
Population
Prenatal diagnosis
Compound heterozygosity
medicine.disease_cause
Polymerase Chain Reaction
Sensitivity and Specificity
law.invention
Asian People
Pregnancy
law
Prenatal Diagnosis
hemic and lymphatic diseases
Internal medicine
medicine
Humans
education
Genetics (clinical)
Polymerase chain reaction
Malay
Mutation
education.field_of_study
business.industry
beta-Thalassemia
Malaysia
Beta thalassemia
medicine.disease
language.human_language
Molecular analysis
language
Female
business
Subjects
Details
- ISSN :
- 15577473 and 10906576
- Volume :
- 5
- Database :
- OpenAIRE
- Journal :
- Genetic Testing
- Accession number :
- edsair.doi.dedup.....d87b03779a10dc5d1eea5736480a7d60