Newborn Screening for Spinal Muscular Atrophy by Calibrated Short-Amplicon Melt Profiling

The management options for the autosomal recessive neurodegenerative disorder spinal muscular atrophy (SMA) are evolving; however, their efficacy may require presymptom diagnosis and continuous treatment. To identify presymptomatic SMA patients, we created a DNA-based newborn screening assay to iden...

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Veröffentlicht in:Clinical chemistry (Baltimore, Md.) Md.), 2012-06, Vol.58 (6), p.1033-1039
Hauptverfasser: DOBROWOLSKI, Steven F, PHAM, Ha T, POUCH DOWNES, Frances, PRIOR, Thomas W, NAYLOR, Edwin W, SWOBODA, Kathy J
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container_issue 6
container_start_page 1033
container_title Clinical chemistry (Baltimore, Md.)
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creator DOBROWOLSKI, Steven F
PHAM, Ha T
POUCH DOWNES, Frances
PRIOR, Thomas W
NAYLOR, Edwin W
SWOBODA, Kathy J
description The management options for the autosomal recessive neurodegenerative disorder spinal muscular atrophy (SMA) are evolving; however, their efficacy may require presymptom diagnosis and continuous treatment. To identify presymptomatic SMA patients, we created a DNA-based newborn screening assay to identify the homozygous deletions of the SMN1 (survival of motor neuron 1, telomeric) gene observed in 95%-98% of affected patients. We developed primers that amplify a 52-bp PCR product from homologous regions in the SMN1 and SMN2 (survival of motor neuron 2, centromeric) genes that flank a divergent site at site c.840. Post-PCR high-resolution melt profiling assessed the amplification product, and we used a unique means of melt calibration to normalize profiles. Samples that we had previously characterized for the numbers of SMN1 and SMN2 copies established genotypes associated with particular profiles. The system was evaluated with approximately 1000 purified DNA samples, 100 self-created dried blood spots, and >1200 dried blood spots from newborn screening tests. Homozygous deletion of SMN1 exon 7 produced a distinctive melt profile that identified SMA patients. Samples with different numbers of SMN1 and SMN2 copies were resolved by their profiles. All samples with homozygous deletions were unambiguously recognized, and no normal sample was misidentified as a positive. This assay has characteristics suitable for population-based screening. A reliable screening test will facilitate the identification of an SMA-affected cohort to receive early intervention to maximize the benefit from treatment. A prospective screening trial will allow the efficacy of treatment options to be assessed, which may justify the inclusion of SMA as a target for population screening.
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To identify presymptomatic SMA patients, we created a DNA-based newborn screening assay to identify the homozygous deletions of the SMN1 (survival of motor neuron 1, telomeric) gene observed in 95%-98% of affected patients. We developed primers that amplify a 52-bp PCR product from homologous regions in the SMN1 and SMN2 (survival of motor neuron 2, centromeric) genes that flank a divergent site at site c.840. Post-PCR high-resolution melt profiling assessed the amplification product, and we used a unique means of melt calibration to normalize profiles. Samples that we had previously characterized for the numbers of SMN1 and SMN2 copies established genotypes associated with particular profiles. The system was evaluated with approximately 1000 purified DNA samples, 100 self-created dried blood spots, and &gt;1200 dried blood spots from newborn screening tests. Homozygous deletion of SMN1 exon 7 produced a distinctive melt profile that identified SMA patients. 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however, their efficacy may require presymptom diagnosis and continuous treatment. 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source MEDLINE; Oxford University Press Journals All Titles (1996-Current)
subjects Analytical, structural and metabolic biochemistry
Biological and medical sciences
Blood
Colleges & universities
Deoxyribonucleic acid
DNA
Exons
Fundamental and applied biological sciences. Psychology
Gene Deletion
Gene Dosage
Genes
Genetic engineering
Genetic testing
Genotypes
Homozygote
Humans
Infant, Newborn
Investigative techniques, diagnostic techniques (general aspects)
Medical sciences
Medical screening
Molecular biophysics
Neonatal Screening - methods
Polymerase Chain Reaction
Prospective Studies
Spinal Muscular Atrophies of Childhood - diagnosis
Spinal Muscular Atrophies of Childhood - genetics
Survival of Motor Neuron 1 Protein - blood
Survival of Motor Neuron 1 Protein - genetics
Survival of Motor Neuron 2 Protein - blood
Survival of Motor Neuron 2 Protein - genetics
Technological change
title Newborn Screening for Spinal Muscular Atrophy by Calibrated Short-Amplicon Melt Profiling
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