HIGH-THROUGHPUT SERVICE FOR THE MOLECULAR DIAGNOSIS OF ELUSIVE DYSTROPHIN GENE MUTATIONS

DMD gene was identified eighteen years ago. At that time researchers claimed that this will make immediately possible a direct molecular testing useful for certain carrier identification and prenatal diagnosis. In addition, a future gene replacement therapy was considered realistic. At the present, one third of DMD/BMD patients do not obtain any molecular information about their status. This situation is remarkably perverse, since the majority of the mutations could be easily identifiable by the same people and the same advanced technical devices purchased for research projects, with a very small fund integration. However, most researchers dislike to be involved in diagnosis since diagnostic projects, even if of outstanding technical merits, are not funded i.e. by Telethon. On the other side, diagnostic laboratories choose to perform “easy” tests, such as standard multiplex PCR, for budget requirements. Our proposal is to help all requesting Italian centres that recruit DMD/BMD patients, by offering a complete and free of charge high-throughput testing. We will be able to perform the full analysis 300 DNA samples of male patients within two years (120 samples the first year and 180 samples the second year). This will be possible using two different tools: 1) 80plex quantitative PCR 2) the novel generation of DHPLC devices and their forthcoming upgrades.