Analysis of Dystrophin Gene Deletions by Multiplex PCR in Moroccan Patients
Author(s) -
Aziza Sbiti,
F. El Kerch,
Abdelaziz Sefiani
Publication year - 2002
Publication title -
biomed research international
Language(s) - English
Resource type - Journals
eISSN - 2314-6141
pISSN - 2314-6133
DOI - 10.1155/s1110724302205069
Subject(s) - exon , duchenne muscular dystrophy , dystrophin , multiplex polymerase chain reaction , genetics , gene , muscular dystrophy , population , biology , polymerase chain reaction , multiplex ligation dependent probe amplification , microbiology and biotechnology , medicine , environmental health
Duchenne and Becker muscular dystrophy (DMD and BMD) are X-linked diseases resulting from a defect in the dystrophin gene located on Xp21. DMD is the most frequent neuromuscular disease in humans (1/3500 male newborn). Deletions in the dystrophin gene represent 65% of mutations in DMD/BMD patients. We have analyzed DNA from 72 Moroccan patients with DMD/BMD using the multiplex polymerase chain reaction (PCR) to screen for exon deletions within the dystrophin gene, and to estimate the frequency of these abnormalities. We found dystrophin gene deletions in 37 cases. Therefore the frequency in Moroccan DMD/BMD patients is about 51.3%. All deletions were clustered in the two known hot-spots regions, and in 81% of cases deletions were detected in the region from exon 43 to exon 52. These findings are comparable to those reported in other studies. It is important to note that in our population, we can first search for deletions of DMD gene in the most frequently deleted exons determined by this study. This may facilitate the molecular diagnosis of DMD and BMD in our country.
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