7 NOVEL-ADDITIONAL SMALL MUTATIONS AND A NEW ALTERNATIVE SPLICING IN THE HUMAN DYSTROPHIN GENE DETECTED BY HETERODUPLEX ANALYSIS AND RESTRICTED RT-PCR HETERODUPLEX ANALYSIS OF ILLEGITIMATE TRANSCRIPTS

Around 35% of Duchenne and Becker muscular dystrophy (DMD/BMD) patient s cannot be identified by techniques which identify major DMD rearrang ements in the dystrophin gene. In order to characterize the gene defec t in these patients, we screened 40 exons of the dystrophin gene by he teroduplex analysis on genomic DNA in 50 affected Italian males. Using conventional heteroduplex analysis and a modified heteroduplex analys is on restricted RT-PCR products of illegitimate transcripts, restrict ed RT-PCR heteroduplex analysis, we were able to identify 7 novel smal l mutations and a new alternative splicing involving exon 25 of the dy strophin gene in peripheral blood lymphocytes and skeletal muscle tran scripts.