title: PCR-RFLP, sequencing, and quantification in molecular diagnosis of spinal muscular atrophy: limits and advantages.
abstract: Spinal muscular atrophy (SMA) is a severe neuromuscular disease. It is a common cause of infant mortality. Its incidence is estimated at 1 in 10,000. Clinically, age of onset and the symptoms can distinguish four types of SMA. The objective of this study is to make available to clinicians a reliable and reproducible test for the molecular diagnosis of SMA. We evaluate the benefits and limitations of three tests used in our laboratory (RFLP-PCR, sequencing, and qPCR).
authors.affiliation: Medical Genetic Laboratory and Molecular Pathology, Medical School, Casablanca, Morocco. Khalil.hamzi@yahoo.fr
authors.forename: K
authors.initials: K
authors.lastname: Hamzi
authors.forename: H
authors.initials: H
authors.lastname: Bellayou
authors.forename: M
authors.initials: M
authors.lastname: Itri
authors.forename: S
authors.initials: S
authors.lastname: Nadifi
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007223:Infant; D008297:Male; D025202:Molecular Diagnostic Techniques / Q000379:methods; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis* / Q000235:genetics; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012680:Sensitivity and Specificity; D017422:Sequence Analysis, DNA; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics; D055540:Survival of Motor Neuron 2 Protein / Q000235:genetics
chemical_list: C526471:SMN1 protein, human; C526477:SMN2 protein, human; D055533:Survival of Motor Neuron 1 Protein; D055540:Survival of Motor Neuron 2 Protein