Please use this identifier to cite or link to this item: https://scholarbank.nus.edu.sg/handle/10635/111846
Title: Detection of β-thalassaemia mutations using DNA heteroduplex generator molecules
Authors: Savage, D.A. 
Wood, N.A.P.
Bidwell, J.L.
Fitches, A.
Old, J.M.
Hui, K.M. 
Keywords: β-thalassaemia
DNA heteroduplex generator
Heteroduplex analysis
Polymerase chain reaction
Singapore
Issue Date: 1995
Citation: Savage, D.A.,Wood, N.A.P.,Bidwell, J.L.,Fitches, A.,Old, J.M.,Hui, K.M. (1995). Detection of β-thalassaemia mutations using DNA heteroduplex generator molecules. British Journal of Haematology 90 (3) : 564-571. ScholarBank@NUS Repository.
Abstract: In this report we describe a rapid polymerase chain reaction (PCR) based method for the detection of β-thalassaemia (β-thal) mutations. This method is based on the visualization of unique DNA heteroduplex banding patterns, following non-denaturing polyacrylamide gel electrophoresis, resulting from hybridization between mutant PCR products and synthetic DNA heteroduplex generator molecules. Using the Singaporean population, which consists of Chinese, Malay and Asian Indian ethnic groups, as a model, we have constructed and evaluated three DNA heteroduplex generator molecules for the detection of the common β-thalassaemia mutations found in this population. The results show that these three molecules are capable of detecting approximately 95% of the mutations found in the Singaporean population. We propose that this technology may be applied as an alternative screening strategy for β-thalassaemia mutations because it is technically simple, flexible, cost-effective, and requires only minimal laboratory resources.
Source Title: British Journal of Haematology
URI: http://scholarbank.nus.edu.sg/handle/10635/111846
ISSN: 00071048
Appears in Collections:Staff Publications

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