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dc.contributor.authorGodinho, Fernanda Marques de Souzapt_BR
dc.contributor.authorBock, Hugopt_BR
dc.contributor.authorGheno, Tailise Contept_BR
dc.contributor.authorPereira, Maria Luiza Saraivapt_BR
dc.date.accessioned2014-02-28T01:50:56Zpt_BR
dc.date.issued2012pt_BR
dc.identifier.issn1415-4757pt_BR
dc.identifier.urihttp://hdl.handle.net/10183/87998pt_BR
dc.description.abstractSpinal muscular atrophy (SMA) is an autosomal recessive inherited disorder caused by alterations in the survival motor neuron I (SMN1) gene. SMA patients are classified as type I-IV based on severity of symptoms and age of onset. About 95% of SMA cases are caused by the homozygous absence of SMN1 due to gene deletion or conversion into SMN2. PCR-based methods have been widely used in genetic testing for SMA. In this work, we introduce a new approach based on TaqMan® real-time PCR for research and diagnostic settings. DNA samples from 100 individuals with clinical signs and symptoms suggestive of SMA were analyzed. Mutant DNA samples as well as controls were confirmed by DNA sequencing. We detected 58 SMA cases (58.0%) by showing deletion of SMN1 exon 7. Considering clinical information available from 56 of them, the patient distribution was 26 (46.4%) SMA type I, 16 (28.6%) SMA type II and 14 (25.0%) SMA type III. Results generated by the new method was confirmed by PCR-RFLP and by DNA sequencing when required. In conclusion, a protocol based on real-time PCR was shown to be effective and specific for molecular analysis of SMA patients.en
dc.format.mimetypeapplication/pdfpt_BR
dc.language.isoengpt_BR
dc.relation.ispartofGenetics and molecular biology. Ribeirão Preto. Vol. 35, n. 4, suppl. (Dec. 2012), p. 955-959pt_BR
dc.rightsOpen Accessen
dc.subjectAtrofia muscular espinalpt_BR
dc.subjectSMAen
dc.subjectSMN1 geneen
dc.subjectProtocolos clínicospt_BR
dc.subjectPatologia molecularpt_BR
dc.subjectGene conversionen
dc.subjectMolecular analysisen
dc.titleMolecular analysis of spinal muscular atrophy : a genotyping protocol based on TaqMan(®) real-time PCRpt_BR
dc.typeArtigo de periódicopt_BR
dc.identifier.nrb000876345pt_BR
dc.type.originNacionalpt_BR


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