DETECTION OF A NONSENSE MUTATION IN THE DYSTROPHIN GENE BY MULTIPLE SSCP

作者：NIGRO V; POLITANO L; NIGRO G; ROMANO SC; MOLINARI AM; PUCA GA

来源：Human Molecular Genetics, 1992, 1(7): 517-520.

DOI：10.1093/hmg/1.7.517

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.

• 出版日期1992-10