Combine-ARMS: a rapid and cost-effective protocol for molecular characterization of beta-thalassemia in Malaysia

Tan, K.L.; Tan, J.A.M.A.; Wong, Y.C.; Wee, Y.C.; Thong, M.K.; Yap, S.F. (2001) Combine-ARMS: a rapid and cost-effective protocol for molecular characterization of beta-thalassemia in Malaysia. Genetic Testing, 5 (1). pp. 17-22. ISSN 1090-6576

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    Abstract

    beta -Thalassemia major patients have chronic anemia and are dependent on blood transfusions to sustain life. Molecular characterization and prenatal diagnosis of beta -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 C-ARMS for ed 41-42/IVSII #654 detected beta -thalassemia mutations in 72 of the Chinese families. C-ARMS for ed 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 ed 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.

    Item Type: Article
    Creators:
    1. Tan, K.L.
    2. Tan, J.A.M.A.(Department of Molecular Medicine, Faculty of Medicine Building, University of Malaya, 50603 Kuala Lumpur, MALAYSIA)
    3. Wong, Y.C.
    4. Wee, Y.C.
    5. Thong, M.K.
    6. Yap, S.F.
    Journal or Publication Title: Genetic Testing
    Additional Information: Department of Molecular Medicine, Faculty of Medicine Building, University of Malaya, 50603 Kuala Lumpur, MALAYSIA
    Uncontrolled Keywords: beta -Thalassemia; Molecular Medicine
    Subjects: R Medicine
    Divisions: Faculty of Medicine
    Depositing User: Ms Haslinda Lahuddin
    Date Deposited: 08 Oct 2012 11:50
    Last Modified: 08 Oct 2012 11:50
    URI: http://eprints.um.edu.my/id/eprint/3726

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