title: Spinal muscular atrophy carrier screening by multiplex polymerase chain reaction using dried blood spot on filter paper.
abstract: Spinal muscular atrophy (SMA) is a common, often fetal, autosomal recessively inherited disease leading to progressive muscle wasting and paralysis as a result of degeneration of anterior horn cells of the spinal cord. The SMA-determining gene, called the survival of motor neuron gene (SMN), is present on 5q13 in two nearly identical copies, telomeric SMN (SMN1) and centromeric SMN (SMN2). It has been established that SMA is caused by mutations in SMN1 whereas homozygous deletion of SMN2 has apparently no pathological consequences. The aim of this study is to develop an easy and inexpensive method for the isolation of high-quality template DNA from blood samples for SMA carrier screening by multiplex polymerase chain reaction. We have developed a protocol that optimizes detection of the SMN1 copy number in the human genome, producing a specific and sensitive assay using DNA extracted from a dried blood spot on IsoCode paper.
authors.affiliation: Neurogenetics Laboratory, Department of Medicine, King Fahad National Guard Hospital, PO Box 22490, Riyadh 11426, Saudi Arabia. majumdar.ramanath@mayo.edu
authors.forename: R
authors.initials: R
authors.lastname: Majumdar
authors.forename: Z
authors.initials: Z
authors.lastname: Rehana
authors.forename: M
authors.initials: M
authors.lastname: Al Jumah
authors.forename: N
authors.initials: N
authors.lastname: Fetaini
mesh_terms: D002895:Chromosomes, Human, Pair 5; D017362:Cyclic AMP Response Element-Binding Protein / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis* / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics; D010209:Paper; D016133:Polymerase Chain Reaction / Q000379:methods*; D016601:RNA-Binding Proteins / Q000235:genetics; D055532:SMN Complex Proteins; D055533:Survival of Motor Neuron 1 Protein; D055540:Survival of Motor Neuron 2 Protein
chemical_list: D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; C526471:SMN1 protein, human; C526477:SMN2 protein, human; D055533:Survival of Motor Neuron 1 Protein; D055540:Survival of Motor Neuron 2 Protein