A simple method for diagnosis of autosomal recessive spinal muscular atrophy by denaturing high-performance liquid chromatography.
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.
Mazzei
Rosalucia
R
Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy. r.mazzei@isn.cnr.it
Conforti
Francesca Luisa
FL
Muglia
Maria
M
Sprovieri
Teresa
T
Patitucci
Alessandra
A
Magariello
Angela
A
Gabriele
Anna Lia
AL
Quattrone
Aldo
A
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
D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins