Abstract
Background and Objectives:: Duchenne muscular Dystrophy is a neuromuscular disorder with muscular atrophy. This disease is consequence of mutations in dystrophin gene located on X chromosome and its inheritance pattern is recessive. The incidance of this disease is one out of 3500 alive male newborns. In two third of the cases the disease is due to new mutation. The reason for such a high frequency of new mutation in the gene is suspected to be due to the size of the gene. This gene is consisted of 79 exons spanning 2400 kb. Among 70% of the patients the gene has large deletions or duplications. In the rest of the cases the gene has tolerated point mutations.
Materials and Methods: DMD patients from East Azarbaijan diagnosed by neurologists were referred to the lab. DNA was extracted from the whole peripheral blood and was analyzed for 26 exons of dystrophin gene by applying Multiplex-PCR technique.
Results: We found that 21 patient out of 46 reffered patients (46%) had larg deletions in one of the exons investigated. Three of these patients (14%) had deletions in one of proximal exons whereas the remaining (86%) had deletions in one of the distal exons (exons number 40 to 52). Fifteen out of 46 families (32.6%) had no affected person other than proband which this indicates that the disease was most likely due to new mutation.
Conclusion: Fourty six Percent of DMD patients from Eastern Azarbaijan had deletion in one of the exons and mainly distal exons of dystrophin gene (exons 40 to 52) were involved in these patients.