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Ann Indian Acad Neurol. 2013 Jan;16(1):57-61. doi: 10.4103/0972-2327.107704.

Deletion analysis of SMN and NAIP genes in Tunisian patients with spinal muscular atrophy.

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1
Department of Neurology, HabibBourguiba University Hospital, Faculté de medecine de Sfax, Sfax, Tunisia.

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.

KEYWORDS:

Neuronal apoptosis inhibitory protein (NAIP) gene; spinal muscular atrophy; survival motor neuron (SMN) gene

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