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.
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Istituto di Patologia Generale e Oncologia, I Facoltà di Medicina Università di Napoli, Italy.
Politano
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Romano
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Molinari
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AM
Puca
G A
GA
D003062:Codon; D016189:Dystrophin / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
D003062:Codon; D016189:Dystrophin