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Analysis of Dystrophin Gene Deletions by Multiplex PCR in Moroccan Patients

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....

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Autores principales: Sbiti, Aziza, El Kerch, Fatiha, Sefiani, Abdelaziz
Formato: Texto
Lenguaje:English
Publicado: 2002
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC161366/
https://www.ncbi.nlm.nih.gov/pubmed/12488581
http://dx.doi.org/10.1155/S1110724302205069
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author Sbiti, Aziza
El Kerch, Fatiha
Sefiani, Abdelaziz
author_facet Sbiti, Aziza
El Kerch, Fatiha
Sefiani, Abdelaziz
author_sort Sbiti, Aziza
collection PubMed
description 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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spelling pubmed-1613662003-07-01 Analysis of Dystrophin Gene Deletions by Multiplex PCR in Moroccan Patients Sbiti, Aziza El Kerch, Fatiha Sefiani, Abdelaziz J Biomed Biotechnol Correspondence Article 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. 2002 /pmc/articles/PMC161366/ /pubmed/12488581 http://dx.doi.org/10.1155/S1110724302205069 Text en Copyright © 2002, Hindawi Publishing Corporation
spellingShingle Correspondence Article
Sbiti, Aziza
El Kerch, Fatiha
Sefiani, Abdelaziz
Analysis of Dystrophin Gene Deletions by Multiplex PCR in Moroccan Patients
title Analysis of Dystrophin Gene Deletions by Multiplex PCR in Moroccan Patients
title_full Analysis of Dystrophin Gene Deletions by Multiplex PCR in Moroccan Patients
title_fullStr Analysis of Dystrophin Gene Deletions by Multiplex PCR in Moroccan Patients
title_full_unstemmed Analysis of Dystrophin Gene Deletions by Multiplex PCR in Moroccan Patients
title_short Analysis of Dystrophin Gene Deletions by Multiplex PCR in Moroccan Patients
title_sort analysis of dystrophin gene deletions by multiplex pcr in moroccan patients
topic Correspondence Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC161366/
https://www.ncbi.nlm.nih.gov/pubmed/12488581
http://dx.doi.org/10.1155/S1110724302205069
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