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

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.. 
