Deletion analysis of SMN and NAIP genes in Tunisian patients with spinal muscular atrophy
| Autor: | Imen Rekik, Amir Boukhris, Sourour Ketata, Mohamed Amri, Nourhene Essid, Imed Feki, Chokri Mhiri |
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| Jazyk: | angličtina |
| Rok vydání: | 2013 |
| Předmět: | |
| Zdroj: | Annals of Indian Academy of Neurology, Vol 16, Iss 1, Pp 57-61 (2013) |
| Druh dokumentu: | article |
| ISSN: | 0972-2327 1998-3549 |
| DOI: | 10.4103/0972-2327.107704 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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