title: A simple method for diagnosis of autosomal recessive spinal muscular atrophy by denaturing high-performance liquid chromatography.
abstract: Autosomal recessive spinal muscular atrophy is caused by mutations in the survival motoneuron (SMN) gene. There are two nearly identical copies of this gene present on chromosome 5q13; however, only the telomeric copy of this gene is affected in spinal muscular atrophy. In this study, we describe a new method to detect SMN gene deletion by denaturing high-performance liquid chromatography, which is also simple to perform but is faster and more specific.
authors.affiliation: Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy. r.mazzei@isn.cnr.it
authors.forename: Rosalucia
authors.initials: R
authors.lastname: Mazzei
authors.forename: Francesca Luisa
authors.initials: FL
authors.lastname: Conforti
authors.forename: Maria
authors.initials: M
authors.lastname: Muglia
authors.forename: Teresa
authors.initials: T
authors.lastname: Sprovieri
authors.forename: Alessandra
authors.initials: A
authors.lastname: Patitucci
authors.forename: Angela
authors.initials: A
authors.lastname: Magariello
authors.forename: Anna Lia
authors.initials: AL
authors.lastname: Gabriele
authors.forename: Aldo
authors.initials: A
authors.lastname: Quattrone
mesh_terms: D002851:Chromatography, High Pressure Liquid / Q000379:methods*; D002869:Chromosome Aberrations; D017362:Cyclic AMP Response Element-Binding Protein; D017353:Gene Deletion; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009691:Nucleic Acid Denaturation / Q000235:genetics*; D016601:RNA-Binding Proteins; D015203:Reproducibility of Results; D012189:Retrospective Studies; D055532:SMN Complex Proteins; D012680:Sensitivity and Specificity; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis* / Q000235:genetics*; D013997:Time Factors
chemical_list: D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins