title: Quick MLPA test for quantification of SMN1 and SMN2 copy numbers.
abstract: Spinal muscular atrophy (SMA) is an autosomal recessive disease caused in about 95% of SMA patients by homozygous deletion of the survival motor neuron 1 (SMN1) gene or its conversion to the highly homologous SMN2 gene. In the majority of cases, disease severity correlates inversely with increased SMN2 copy number. Because of the comparatively high incidence of healthy carriers and severity of the disease, detection of sequence alterations and quantification of SMN1 and SMN2 copy numbers are essential for exact diagnosis and genetic counselling. Several assays have been developed for this purpose. Multiplex ligation-dependent probe amplification (MLPA) is a versatile technique for relative quantification of different nucleic acid sequences in a single reaction. Here, we establish a quick MLPA-based assay for the detection of SMN1 and SMN2 copy numbers with high specificity and low complexity.
authors.affiliation: Dipartimento di Scienze e Tecnologie Biomediche, Università di Udine, P.le M. Kolbe 1, 33100 Udine, Italy.
authors.forename: Nadia
authors.initials: N
authors.lastname: Passon
authors.forename: Giorgia
authors.initials: G
authors.lastname: Dubsky de Wittenau
authors.forename: Irena
authors.initials: I
authors.lastname: Jurman
authors.forename: Slobodanka
authors.initials: S
authors.lastname: Radovic
authors.forename: Elisa
authors.initials: E
authors.lastname: Bregant
authors.forename: Cristiano
authors.initials: C
authors.lastname: Molinis
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Damante
authors.forename: Incoronata Renata
authors.initials: IR
authors.lastname: Lonigro
mesh_terms: D004247:DNA / Q000235:genetics; D015342:DNA Probes; D005260:Female; D018628:Gene Dosage; D006580:Genetic Carrier Screening / Q000379:methods; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis / Q000235:genetics; D021141:Nucleic Acid Amplification Techniques / Q000379:methods*; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics*; D055540:Survival of Motor Neuron 2 Protein / Q000235:genetics
chemical_list: D015342:DNA Probes; C526471:SMN1 protein, human; C526477:SMN2 protein, human; D055533:Survival of Motor Neuron 1 Protein; D055540:Survival of Motor Neuron 2 Protein; D004247:DNA