Molecular Characterisation of Haemoglobin constant spring and Haemoglobin Quong Sze with a combine-amplification refractory mutation system

Wee, Y.C.; Tan, K.L.; Chua, K.H.; George, E.; Tan, J.A. (2009) Molecular Characterisation of Haemoglobin constant spring and Haemoglobin Quong Sze with a combine-amplification refractory mutation system. Malaysian Journal of Medical Sciences, 16 (3). pp. 23-30. ISSN 1394-195X

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    Abstract

    BACKGROUND: The interaction of the non-deletional α(+)-thalassaemia mutations Haemoglobin Constant Spring and Haemoglobin Quong Sze with the Southeast Asian double α-globin gene deletion results in non-deletional Haemoglobin H disease. Accurate detection of non-deletional Haemoglobin H disease, which is associated with severe phenotypes, is necessary as these mutations have been confirmed in the Malaysian population. METHODS: DNA from two families with Haemoglobin H disease was extracted from EDTA-anticoagulated whole blood and subjected to molecular analysis for α-thalassaemia. A duplex polymerase chain reaction was used to detect the Southeast Asian α-globin gene deletion. Polymerase chain reaction-restriction fragment length polymorphism analysis was then carried out to determine the presence of Haemoglobin Constant Spring and Haemoglobin Quong Sze. A combine-amplification refractory mutation system protocol was optimised and implemented for the rapid and specific molecular characterisation of Haemoglobin Constant Spring and Haemoglobin Quong Sze in a single polymerase chain reaction. RESULTS AND CONCLUSIONS: The combine-amplification refractory mutation system for Haemoglobin Constant Spring and Haemoglobin Quong Sze, together with the duplex polymerase chain reaction, provides accurate pre- and postnatal diagnosis of non-deletional Haemoglobin H disease and allows detailed genotype analyses using minimal quantities of DNA.

    Item Type: Article
    Creators:
    1. Wee, Y.C.
    2. Tan, K.L.
    3. Chua, K.H.(Department of Molecular Medicine, Faculty of Medicine Building, University of Malaya, 50603 Kuala Lumpur, MALAYSIA)
    4. George, E.
    5. Tan, J.A.
    Journal or Publication Title: Malaysian Journal of Medical Sciences
    Additional Information: Department of Molecular Medicine, Faculty of Medicine Building, University of Malaya, 50603 Kuala Lumpur, MALAYSIA
    Uncontrolled Keywords: Combine-ARMS, Hb Constant Spring, Hb Quong Sze, medical sciences
    Subjects: R Medicine
    Divisions: Faculty of Medicine
    Depositing User: Ms azrahani halim
    Date Deposited: 02 Nov 2012 09:19
    Last Modified: 02 Nov 2012 09:19
    URI: http://eprints.um.edu.my/id/eprint/3836

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