Dataset Information
Deletion analysis of SMN and NAIP genes in Tunisian patients with spinal muscular atrophy.
Ontology highlight
ABSTRACT: 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.
SUBMITTER: Rekik I
PROVIDER: S-EPMC3644783 | biostudies-literature | 2013 Jan
REPOSITORIES: biostudies-literature
Publications
Deletion analysis of SMN and NAIP genes in Tunisian patients with spinal muscular atrophy.
Annals of Indian Academy of Neurology 20130101 1
<h4>Background</h4>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.<h4>Aims</h4>The purpose of our study was to determine the frequency of SMN and NAIP deletions in Tunisian SMA patients.<h4>Materials and methods</h4>Polymerase chain reaction (PCR) combined with restriction fragment length polymorphism (RFLP) was used to detect the deletion of exon 7 a ...[more]