Abstract
Around 35% of Duchenne and Becker muscular dystrophy (DMD/BMD) patients cannot be identified by techniques which identify major DMD rearrangements in the dystrophin gene. In order to characterize the gene defect in these patients, we screened 40 exons of the dystrophin gene by heteroduplex analysis on genomic DNA in 50 affected Italian males. Using conventional heteroduplex analysis and a modified heteroduplex analysis on restricted RT-PCR products of illegitimate transcripts, restricted RT-PCR heteroduplex analysis, we were able to identify 7 novel small mutations and a new alternative splicing involving exon 25 of the dystrophin gene in peripheral blood lymphocytes and skeletal muscle transcripts.
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Acknowledgements
We are extremely grateful to the patients and their families for their collaboration. We thank Dr. M. Sessa and Dr. A. Brambilla for their contribution. Thanks are also due to Legato Ferrari, Modena, for supporting the genetic counselling.
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Barbieri, A.M., Soriani, N., Ferlini, A. et al. Seven Novel Additional Small Mutations and a New Alternative Splicing in the Human Dystrophin Gene Detected by Heteroduplex Analysis and Restricted RT-PCR Heteroduplex Analysis of Illegitimate Transcripts. Eur J Hum Genet 4, 183–187 (1996). https://doi.org/10.1159/000472193
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DOI: https://doi.org/10.1159/000472193
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