Please use this identifier to cite or link to this item: http://scholarbank.nus.edu.sg/handle/10635/23160
Title: Molecular characterization of point mutations in dystrophin gene and drug-induced readthroughs of stop codons
Authors: LIM PEI PING, DOROTHY
Keywords: dystrophin, point mutations, readthroughs
Issue Date: 1-Jul-2007
Source: LIM PEI PING, DOROTHY (2007-07-01). Molecular characterization of point mutations in dystrophin gene and drug-induced readthroughs of stop codons. ScholarBank@NUS Repository.
Abstract: Duchenne Muscular Dystrophy (DMD) is an inherited paediatric disorder caused by mutations in the gene encoding the muscle protein, dystrophin. A novel approach for gene repair in DMD targets suppression of nonsense mutations thus resulting in translational readthrough and restoration of dystrophin expression. The main objectives of this study are to: (1) screen for point mutations in six non-deletion DMD patients, (2) investigate the efficacy of four aminoglycosides (gentamicin, paromomycin, tobramycin and G418) in mediating dystrophin translational readthrough of the three types of stop codons, and (3) establish a cell-free protein assay and develop a novel cell-based assay as platforms for studying dystrophin translational readthroughs. Results demonstrate that all the aminoglycosides used in this study could restore dystrophin expression for both assay systems. However, therapeutic readthrough levels, which corresponded to a range between 10% and 40% of the wild-type protein expression, where obtained only in the cell-free protein assay system.
URI: http://scholarbank.nus.edu.sg/handle/10635/23160
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ACKNOWLEDGEMENT.pdf51.69 kBAdobe PDF

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TABLE OF CONTENTS.pdf99.68 kBAdobe PDF

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LIST OF TABLES.pdf74.22 kBAdobe PDF

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SUMMARY.pdf54.82 kBAdobe PDF

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CHAPTER 1 - INTRODUCTION.pdf166.44 kBAdobe PDF

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CHAPTER2 - MATERIALS AND METHODS.pdf228.59 kBAdobe PDF

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CHAPTER 3 - RESULTS.pdf983.89 kBAdobe PDF

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CHAPTER 4 - DISCUSSION.pdf156.72 kBAdobe PDF

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CHAPTER 5 - CONCLUSION.pdf70.14 kBAdobe PDF

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REFERENCES.pdf140.67 kBAdobe PDF

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APPENDIX.pdf70.68 kBAdobe PDF

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