| ORIGINAL ARTICLE |
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| Year : 2013 | Volume
: 16
| Issue : 1 | Page : 57-61 |
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Deletion analysis of SMN and NAIP genes in Tunisian patients with spinal muscular atrophy
Imen Rekik, Amir Boukhris, Sourour Ketata, Mohamed Amri, Nourhene Essid, Imed Feki, Chokri Mhiri
Department of Neurology, HabibBourguiba University Hospital, Faculté de medecine de Sfax, Sfax, Tunisia
Correspondence Address:
Amir Boukhris
Service de Neurologie, Hôpital Habib Bourguiba, 3029, Sfax
Tunisia
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0972-2327.107704
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Background: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder involving degeneration of anterior horn cells of spinal cord, resulting in progressive muscle weakness and atrophy. Aims: The purpose of our study was to determine the frequency of SMN and NAIP deletions in Tunisian SMA patients. Materials and Methods: Polymerase chain reaction (PCR) combined with restriction fragment length polymorphism (RFLP) was used to detect the deletion of exon 7 and exon 8 of SMN1 gene, as well as multiplex PCR for exon 5 and 13 of NAIP gene. Results: Fifteen (45.4%) out of 33 SMA patients were homozygously deleted for exons 7 and/or 8 of SMN1. Homozygous deletion of NAIP gene was observed in 20% (3 / 15) of patients. Conclusions: The molecular diagnosis system based on PCR-RFLP analysis can conveniently be applied in the clinical testing, genetic counseling, prenatal diagnosis, and pre-implantation genetic diagnosis of SMA. |
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