Detection of a nonsense mutation in the dystrophin gene by multiple SSCP. |
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Authors: | V Nigro L Politano G Nigro S C Romano A M Molinari G A Puca |
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Institution: | Istituto di Patologia Generale e Oncologia, I Facoltà di Medicina Università di Napoli, Italy. |
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Abstract: | A combination of multiplex PCR with the single strand conformation polymorphism (SSCP) technique was employed to screen for point mutations in the human dystrophin gene. Co-amplification of 11 exons from genomic DNA of Duchenne and Becker muscular dystrophy (DMD/BMD) patients with no deletion or duplication was performed and the samples subjected to multiple SSCP analysis. We report the case of a nonsense mutation in a Duchenne patient identified by this approach. The mutation introduces a termination codon within exon 8 of the dystrophin gene. It is predicted to cause a very premature translational termination accounting for the severe phenotype observed. The patient inherited this mutation from his mother. In addition the analysis revealed 5 polymorphisms useful for internal control. |
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