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© 1992 Oxford University Press

RESEARCH-ARTICLE

Detection of a nonsense mutation in the dystrophin gene by multiple SSCP

Vincenzo Nigro*, Luisa Politano1, Giovanni Nigro1, Sergio Colonna Romano1, Anna Maria Molinari and Giovanni Alfredo Puca

Istituto di Patologia Generale e Oncologia, I Facoltà di Medicina Università di Napoli S. Andrea delle Dame, 2 80138 Napoli, Italy 1Dipartimento di Internistica Clinica e Sperimentale ‘F. Magrassi’ Università di Napoli Italy

*To whom correspondence should be addressed

Received June 17, 1992; Revised August 28, 1992; Accepted August 28, 1992

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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