CHARACTERIZATION OF 2 NONSENSE MUTATIONS IN THE HUMAN DYSTROPHIN GENE

Forty Duchenne muscular dystrophy patients from the province of Moravi a in the Czech Republic, who were previously found negative for large deletions in the dystrophin gene, were tested for the presence of poin t mutations in selected exons. Besides several intron and exon polymor phisms, two cases of nonsense mutations were detected in exon 70, thus causing the loss of the C-terminal domain of dystrophin. One of these , the mutation, S3365X, is newly reported here while the other, R3381X , has been described previously. These mutations, only 16bp distant fr om each other, have a very different impact on the mental abilities of the corresponding patients.