Evaluation and characterization of a high-resolution melting analysis kit for rapid carrier-screening test of spinal muscular atrophy.
J Neurogenet
; 29(2-3): 113-6, 2015.
Article
em En
| MEDLINE
| ID: mdl-25895942
ABSTRACT
Spinal muscular atrophy (SMA) is a common autosomal recessive disorder in humans, caused by the homozygous absence of the survival motor neuron gene 1 (SMN1). SMN2, a copy gene, influences the severity of SMA. Several assays have been described for molecular diagnosis or carrier screening of SMA. A newly developed tool based on a high-resolution melting analysis (HRMA) that enables high-throughput screening without sophisticated protocols but low costs reveals itself to be powerful. We evaluate the performance of an HRMA-based kit for a carrier-screening test of SMA that was designed to detect the substitution of a single nucleotide in SMN1 exon 7. Carriers were identified in 453 participants by quantifying the SMN1 gene and compared with denaturing high-performance liquid chromatography (DHPLC) assay. An HRMA-based kit had a higher sensitivity (100%) for carrier testing than the DHPLC assay (93%), with the added advantage that some homozygous sequence alterations could be identified. The HRMA kit is a new, fast, and highly reliable quantitative test for the SMA molecular carrier test.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Atrofia Muscular Espinal
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Testes Genéticos
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Proteína 1 de Sobrevivência do Neurônio Motor
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Triagem de Portadores Genéticos
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Mutação
Tipo de estudo:
Diagnostic_studies
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Guideline
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Prognostic_studies
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Screening_studies
Limite:
Humans
Idioma:
En
Revista:
J Neurogenet
Ano de publicação:
2015
Tipo de documento:
Article
País de afiliação:
Taiwan