title: Confirmation of the spinal motor neuron gene 2 (SMN2) copy numbers by real-time PCR.
abstract: Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by mutation or deletion of the survival motor neuron gene 1 (SMN1). SMN2, a copy gene, influences the severity of SMA and may be used in somatic gene therapy of patients with SMA in the future. The SMA carrier analysis developed at the Institute of Medical Genetics, Catholic University (Rome), on the Applied Biosystems real-time PCR instruments by Dr Danilo Tiziano and his group, provides a robust workflow to evaluate SMA carrier status. In this study, the SMN2 copy number was confirmed on 22 patients by developing our own assay on the basis of a relative real-time PCR system using the 7500 Fast Real-Time PCR System.
authors: Department of Molecular Neurobiology and Neuropathology, La Rabta, National Institute of Neurology, Tunis, Tunisia. wieme_hicheri@yahoo.fr
authors: Maamouri-Hicheri
authors: MH
authors: Wieme
authors: Hammer
authors: H
authors: Monia Ben
authors: Bouhlal
authors: B
authors: Yosr
authors: Souilem
authors: S
authors: Sihem
authors: Toumi
authors: T
authors: Nawel
authors: Manai-Azizi
authors: MA
authors: Ines
authors: Bennour
authors: B
authors: Wajdi
authors: Khmiri
authors: K
authors: Najla
authors: Nahdi
authors: N
authors: Houda
authors: Hentati
authors: H
authors: Faycal
authors: Amouri
authors: A
authors: Rim
mesh_terms: D018628:Gene Dosage; D006801:Humans; D009134:Muscular Atrophy, Spinal / Q000235:genetics; D060888:Real-Time Polymerase Chain Reaction; D055540:Survival of Motor Neuron 2 Protein / Q000235:genetics
chemical_list: C526477:SMN2 protein, human; D055540:Survival of Motor Neuron 2 Protein