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  • Title: Detection of a nonsense mutation in the dystrophin gene by multiple SSCP.
    Author: Nigro V, Politano L, Nigro G, Romano SC, Molinari AM, Puca GA.
    Journal: Hum Mol Genet; 1992 Oct; 1(7):517-20. PubMed ID: 1307253.
    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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