GENE DELETIONS IN JAPANESE PATIENTS WITH DUCHENNE AND BECKER MUSCULAR DYSTROPHY

Thirty-eight unrelated Japanese patients with Duchenne and Becker muscular dystrophy (DMD and BMD) have been investigated with the DMD cDNA probes. The 14-kb DMD cDNA was subdivided into 6 subclones andHindIII-digested DNAs were analyzed by Southern blotting. Out of 38 unrelated patients, 14 showed a deletion of one or several of the exon-containingHindIII fragments (36.8%). These corresponded to 50% (9/18) of BMD patients and 25% (5/20) of DMD patients, and the position and extent of deletions were mapped and proved to be more heterogeneous in DMD than in BMD. Both ends of deletions detected in probe 1-2a were common to all six BMD patients without the maintenance of reading frame of messenger RNA, and 5′ ends of deletions in probe 5b-7 were also common but maintained in frame in three BMD patients. The phenotypic-specific deletion in Japanese BMD patients has existed in the 5′ end of the DMD gene, although its apparently similar deletion produced a wide range of clinical courses (BMD phenotype). There was no tight correlation between clinical severity and presence or absence of deletion in DMD or BMD.