Detection of Spinal Muscular Atrophy Carriers in a Sample of the Brazilian Population

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dc.contributor.authorBueno, K. C.
dc.contributor.authorGouvea, S. P.
dc.contributor.authorGenari, A. B.
dc.contributor.authorFunayama, C. A.
dc.contributor.authorZanette, D. L.
dc.contributor.authorSilva, W. A.
dc.contributor.authorOliveira, A. B. [UNIFESP]
dc.contributor.authorScola, R. H.
dc.contributor.authorWerneck, L. C.
dc.contributor.authorMarques, W.
dc.contributor.institutionUniversidade de São Paulo (USP)
dc.contributor.institutionUniv Fed Parana
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.date.accessioned2016-01-24T14:06:02Z
dc.date.available2016-01-24T14:06:02Z
dc.date.issued2011-01-01
dc.description.abstractBackground: Spinal muscular atrophy is a common autosomal recessive neuromuscular disorder caused by mutations in the SMN1 gene. Identification of spinal muscular atrophy carriers has important implications for individuals with a family history of the disorder and for genetic counseling. the aim of this study was to determine the frequency of carriers in a sample of the nonconsanguineous Brazilian population by denaturing high-performance liquid chromatography (DHPLC). Methods: To validate the method, we initially determined the relative quantification of DHPLC in 28 affected patients (DHPLC values: 0.00) and 65 parents (DHPLC values: 0.49-0.69). Following quantification, we studied 150 unrelated nonconsanguineous healthy individuals from the general population. Results: Four of the 150 healthy individuals tested (with no family history of a neuromuscular disorder) presented a DHPLC value in the range of heterozygous carriers (0.6-0.68). Conclusions: Based on these results, we estimated there is a carrier frequency of 2.7% in the nonconsanguineous Brazilian population, which is very similar to other areas of the world where consanguineous marriage is not common. This should be considered in the process of genetic counseling and risk calculations. Copyright (C) 2011 S. Karger AG, Baselen
dc.description.affiliationUniv São Paulo, Dept Neurosci & Behav Sci, Sch Med Ribeirao Preto, BR-14040900 Ribeirao Preto, SP, Brazil
dc.description.affiliationUniv São Paulo, Dept Genet, BR-14040900 Ribeirao Preto, SP, Brazil
dc.description.affiliationUniv Fed Parana, Div Neurol, BR-80060000 Curitiba, Parana, Brazil
dc.description.affiliationUniversidade Federal de São Paulo, Dept Neurol, São Paulo, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Dept Neurol, São Paulo, Brazil
dc.description.provenanceMade available in DSpace on 2016-01-24T14:06:02Z (GMT). No. of bitstreams: 0 Previous issue date: 2011-01-01en
dc.description.sourceWeb of Science
dc.description.sponsorshipFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.description.sponsorshipConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.description.sponsorshipCoordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
dc.description.sponsorshipFAEPA
dc.format.extent105-108
dc.identifierhttp://dx.doi.org/10.1159/000324156
dc.identifier.citationNeuroepidemiology. Basel: Karger, v. 36, n. 2, p. 105-108, 2011.
dc.identifier.doi10.1159/000324156
dc.identifier.issn0251-5350
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/33331
dc.identifier.wosWOS:000289337700007
dc.language.isoeng
dc.publisherKarger
dc.relation.ispartofNeuroepidemiology
dc.rightsAcesso restrito
dc.rights.licensehttp://www.karger.com/Services/RightsPermissions
dc.subjectSpinal muscular atrophyen
dc.subjectSMN1 geneen
dc.subjectDenaturing high-performance liquid chromatographyen
dc.titleDetection of Spinal Muscular Atrophy Carriers in a Sample of the Brazilian Populationen
dc.typeArtigo
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