[Study of exon deletion in the dystrophin gene in individuals being diagnosed with duchenne muscular dystrophy in Ahvaz]

ABSTRACT

Duchenne muscular dystrophy is an X-linked genetic disorder resulting from mutation or deletion in the Dystrophin gene. The aim of this study was to evaluate the primary diagnosis of affected individuals that have been referred to the genetic lab of the Shafa hospital in Ahvaz. Progressive muscle weakness was present in all the patients. DNA from peripheral blood was extracted from affected patients and subsequent multiplex-PCR was performed to determine putative deletions in the Dystrophin gene. in 53% of cases were deletions identified in exons 44-51 in the Dystrophin gene and therefore the clinical diagnosis could be confirmed. On the other hand, we found no deletion in 47% of cases. it seems that the patients suffering Duchenne muscular Dystrophy in Ahvaz show, independent to their ethnicity, the gene inactivating deletion in the end part of the Dystrophin gene. These results would be used for the differential and for the prenatal diagnosis in the Khuzestan province