Quick MLPA test for quantification of SMN1 and SMN2 copy numbers.
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.
Passon
Nadia
N
Dipartimento di Scienze e Tecnologie Biomediche, Università di Udine, P.le M. Kolbe 1, 33100 Udine, Italy.
Dubsky de Wittenau
Giorgia
G
Jurman
Irena
I
Radovic
Slobodanka
S
Bregant
Elisa
E
Molinis
Cristiano
C
Damante
Giuseppe
G
Lonigro
Incoronata Renata
IR
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
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