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Research ArticleOriginal Article
Open Access

Deletion mutations in the dystrophin gene of Saudi patients with Duchenne and Becker muscular dystrophy

Mohammed Al-Jumah, Ramanath Majumdar, Saad Al-Rajeh, Enrique Chaves-Carballo, Mustafa M. Salih, Adnan Awada, Saad Al-Shahwan and Shifa Al-Uthaim
Saudi Medical Journal December 2002, 23 (12) 1478-1482;
Mohammed Al-Jumah
Neurogenetics Laboratory, Neurology Section, King Fahad National Guard, Riyadh, Kingdom of Saudi Arabia.
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Ramanath Majumdar
Department of Medicine, Mail Code 1143, King Fahad National Guard Hospital, PO Box 22490, Riyadh 11426, Kingdom of Saudi Arabia. Tel. +966 (1) 2520088. Ext. 6663. Fax. +966 (1) 2520040. E-mail: [email protected]
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Saad Al-Rajeh
Division of Neurology, King Saud University, Riyadh, Kingdom of Saudi Arabia.
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Enrique Chaves-Carballo
Department of Neurosciences, King Faisal Specialist Hospital & Research Center, Riyadh, Kingdom of Saudi Arabia.
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Mustafa M. Salih
Department of Pediatrics, King Saud University, Riyadh, Kingdom of Saudi Arabia.
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Adnan Awada
Neurology Section, King Fahad National Guard Hospital, Riyadh, Kingdom of Saudi Arabia.
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Saad Al-Shahwan
Department of Pediatrics, Armed Forces Hospital, Riyadh, Kingdom of Saudi Arabia.
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Shifa Al-Uthaim
Neurogenetics Laboratory, King Fahad National Guard Hospital, Riyadh, Kingdom of Saudi Arabia.
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Abstract

OBJECTIVE: The deletion in the dystrophin gene has been reported for many ethnic groups, but until now the mutations in this gene have not been thoroughly investigated in Saudi patients with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). We examined the deletion pattern in the dystrophin gene of the Saudi patients applying multiplex-polymerase chain reaction (PCR). The aim of this study is to describe the outcome of our initial effort to identify mutations in the dystrophin gene in a representative group of Saudi patients with DMD and BMD.

METHODS: Genomic deoxyribose nucleic acid was isolated from 41 patients with DMD and BMD (27 patients confirmed by muscle biopsy and 14 patients with clinical suspicion), 3 patients with limb girdle muscular dystrophy, 12 male relatives of the patients, and 5 healthy Saudi volunteers. A total of 25 exons around the deletion prone regions (hot spots) of the dystrophin gene were amplified. The study was carried out at the King Fahad National Guard Hospital, Riyadh, Kingdom of Saudi Arabia between 2000 and 2002.

RESULTS: The deletion of one or more exons was found in 21 of 27 DMD and BMD patients confirmed by muscle biopsy. The deletion in the gene was detected in 5 of 14 patients with DMD diagnosis, but not confirmed by dystrophin staining of muscle biopsy. No deletion in the dystrophin gene was detected in control Saudi volunteers, the limb girdle dystrophy patients, and the relatives of patients, as expected.

CONCLUSION: The present study suggests that intragenic dystrophin gene deletions occur with the same frequency in Saudi patients compared with other ethnic groups. The PCR-based deletion analysis provides a reasonable first step in the diagnostic care of Saudi patients who may be afflicted with DMD and BMD.

  • Copyright: © Saudi Medical Journal

This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Saudi Medical Journal: 23 (12)
Saudi Medical Journal
Vol. 23, Issue 12
1 Dec 2002
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Deletion mutations in the dystrophin gene of Saudi patients with Duchenne and Becker muscular dystrophy
Mohammed Al-Jumah, Ramanath Majumdar, Saad Al-Rajeh, Enrique Chaves-Carballo, Mustafa M. Salih, Adnan Awada, Saad Al-Shahwan, Shifa Al-Uthaim
Saudi Medical Journal Dec 2002, 23 (12) 1478-1482;

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Deletion mutations in the dystrophin gene of Saudi patients with Duchenne and Becker muscular dystrophy
Mohammed Al-Jumah, Ramanath Majumdar, Saad Al-Rajeh, Enrique Chaves-Carballo, Mustafa M. Salih, Adnan Awada, Saad Al-Shahwan, Shifa Al-Uthaim
Saudi Medical Journal Dec 2002, 23 (12) 1478-1482;
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© 2025 Saudi Medical Journal Saudi Medical Journal is copyright under the Berne Convention and the International Copyright Convention.  Saudi Medical Journal is an Open Access journal and articles published are distributed under the terms of the Creative Commons Attribution-NonCommercial License (CC BY-NC). Readers may copy, distribute, and display the work for non-commercial purposes with the proper citation of the original work. Electronic ISSN 1658-3175. Print ISSN 0379-5284.

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