A Simple Method for Diagnosis of Autosomal Recessive Spinal Muscular Atrophy by Denaturing High-Performance Liquid Chromatography

• Published in: Journal of child neurology Vol. 18; no. 4; pp. 269 - 271
• Main Authors: Mazzei, Rosalucia, Conforti, Francesca Luisa, Muglia, Maria, Sprovieri, Teresa, Patitucci, Alessandra, Magariello, Angela, Lia Gabriele, Anna, Quattrone, Aldo
• Format: Journal Article
• Language: English
• Published: Los Angeles, CA SAGE Publications 01-04-2003
• Subjects: Chromatography, High Pressure Liquid - methods; Chromosome Aberrations; Cyclic AMP Response Element-Binding Protein; Gene Deletion; Genes, Recessive - genetics; Humans; Nerve Tissue Proteins - genetics; Nucleic Acid Denaturation - genetics; Reproducibility of Results; Retrospective Studies; RNA-Binding Proteins; Sensitivity and Specificity; SMN Complex Proteins; Spinal Muscular Atrophies of Childhood - diagnosis; Spinal Muscular Atrophies of Childhood - genetics; Time Factors
• ISSN: 0883-0738; 1708-8283
• DOI: 10.1177/08830738030180041301

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. (J Child Neurol 2003;18:269—271).