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Abstract
DMD and BMD are common lethal neuromuscular genetic diseases. Only the disorder arises as a new mutation in one third of these patients. Mothers of affected males are DMD/BMD carriers in two thirds of the cases. Since gene deletions account for approximately 60-65% of the disease-related mutations the carrier status of the mother or sister of the patients with a deletion / duplication pattern can be analyzed with the help of semi-quantitative PCR which is a simple PCR procedure for carrier detection in DMD/BMD as reported by Abbs & Bobrow in 1992 as a method of early genetic counseling and a step for prenatal diagnosis to avoid further new generations with DMD/BMD patients Our Study was done on 95 subjects, including DMD/ BMD patients and their at risk female relatives. After thorough history and clinical examination for all the patients and the studied female relatives’ dystrophin gene analysis was done using both Multiplex PCR and semi-quantitative PCR for the identification of the carrier status. Further the Multiplex ligation probe amplification method was added for verification of our results.Dystrophin gene mutation was identified in 30 patients, (70%), including deletion mutation in 27 patients (63%), while duplication mutation was identified in 3 patients (6.7%). Carrier status was identified in 20 mothers (67%). As regard the studied sisters’ carrier state was identified in 12 sisters (54.5%)All the manifesting cases had dystrophin gene mutation, and so we could confirm the diagnosis of manifesting carriers and exclude the diagnosis of SCARMD or LGMD.New mutation was identified in 10 of the studied DMD/BMD patients as their mothers were diagnosed as non carriers. The usage of Multiplex PCR and semi-quantitative PCR in combination of more recent method of multiple ligation-probe amplification (MLPA), has proved to be a reliable tool for the diagnosis of dystrophin gene mutation in patients and females.We recommended the screening of at risk female relatives of DMD/BMD patients with known mutation using clinical, laboratory and electrophysiological study together with dystrophin gene analysis as an accurate method for the identification of carrier status.