Molecular Analysis of Algerian Patients with Duchenne and Becker Muscular Dystrophy

Hamdouche Nadira; Sifi Yamina; Mahdi Djahida; Dalichaouche Imen; Sifi Karima; Abadi Noureddine; Mâ€™ Zahem Abderrahim; Satta Dalila

doi:10.38150/sajeb.10(3).p176-182

Authors

Hamdouche Nadira Department of Natural Sciences and Life, Faculty of Exacts Sciences and Nature and Life Sciences, University of Oum El Bouaghi 04000, Algeria
Sifi Yamina Department of Natural Sciences and Life, Faculty of Exacts Sciences and Nature and Life Sciences, University of Oum El Bouaghi 04000, Algeria
Mahdi Djahida Laboratory of Biology and Molecular Genetics University Hospital Center of Constantine and University 3 of Constan-tine 25000, Algeria
Dalichaouche Imen Department of Natural Sciences and Life, Faculty of Exacts Sciences and Nature and Life Sciences, University of Oum El Bouaghi 04000, Algeria
Sifi Karima Department of Natural Sciences and Life, Faculty of Exacts Sciences and Nature and Life Sciences, University of Oum El Bouaghi 04000, Algeria
Abadi Noureddine Department of Natural Sciences and Life, Faculty of Exacts Sciences and Nature and Life Sciences, University of Oum El Bouaghi 04000, Algeria
Mâ€™ Zahem Abderrahim Service of Neurology, University Hospital Center of Constantine 25000, Algeria
Satta Dalila Laboratory of Molecular and Cellular Biology, Faculty of Nature and Life Sciences, University 1 of Constantine 25000, Algeria

DOI:

https://doi.org/10.38150/sajeb.10(3).p176-182

Abstract

Duchenne and Becker muscular dystrophy (DMD/BMD) are the most com-mon neuromuscular diseases caused by mutations in the dystrophin gene also called (DMD gene), located at Xp21. We report the clinical and genetic analysis of 74Algerian DMD/BMD patients from 62unrelated families who attended the neuromuscular unit of the University Hospital Center of Con-stantine between 2014 and 2017. After informed consent, multiplex poly-merase chain reaction (mPCR)was established to identify deletions. All pa-tients presented a classical phenotype dominated by a bilateral and symmetrical motor deficit predominantly proximal with calf hypertrophy in 91.6% of patients, with very high serum CK levels. Molecular analysis of the DMD gene showed, large deletions at all patients. Most of the deletions were between exons 44 and 53, the most frequent were deletions of exons 45-48, with ex-on 45 as the most common single exon deletion. Our study had generated considerable data on deletions that may promote future experimental thera-pies in Algeria.