Screening for fragile X syndrome among Brazilian mentally retarded male patients using PCR from buccal cell DNA

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dc.contributor.authorChristofolini, Denise Maria [UNIFESP]
dc.contributor.authorLipay, Monica Vannucci Nunes [UNIFESP]
dc.contributor.authorRamos, Marco Antonio Paula de [UNIFESP]
dc.contributor.authorBrunoni, Decio [UNIFESP]
dc.contributor.authorMelaragno, Maria Isabel [UNIFESP]
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.date.accessioned2018-06-15T17:30:20Z
dc.date.available2018-06-15T17:30:20Z
dc.date.issued2006-01-01
dc.description.abstractFragile X syndrome is one of the most frequent causes of mental retardation. Since the phenotype in this syndrome is quite variable, clinical diagnosis is not easy and molecular laboratory diagnosis is necessary. Usually DNA from blood cells is used in molecular tests to detect the fragile X mutation which is characterized by an unstable expansion of a CGG repeat in the fragile X mental retardation gene ( FMR1). In the present study, blood and buccal cells of 53 mentally retarded patients were molecularly analyzed for FMR1 mutation by PCR. Our data revealed that DNA extraction from buccal cells is a useful noninvasive alternative in the screening of the FMR1 mutation among mentally retarded males.en
dc.description.affiliationUniv Fed Sao Paulo, Dept Morfol, Disciplina Genet, Sao Paulo, SP, Brazil
dc.description.affiliationUnifespUniv Fed Sao Paulo, Dept Morfol, Disciplina Genet, Sao Paulo, SP, Brazil
dc.description.sourceWeb of Science
dc.format.extent448-453
dc.identifierhttp://www.funpecrp.com.br/gmr/year2006/vol3-5/gmr0214_abstract.htm
dc.identifier.citationGenetics And Molecular Research. Ribeirao Preto: Funpec-editora, v. 5, n. 3, p. 448-453, 2006.
dc.identifier.fileWOS000203011900004.pdf
dc.identifier.issn1676-5680
dc.identifier.urihttp://repositorio.unifesp.br/11600/43715
dc.identifier.wosWOS:000203011900004
dc.language.isoeng
dc.publisherFunpec-editora
dc.relation.ispartofGenetics And Molecular Research
dc.rightsAcesso aberto
dc.subjectfragile X syndromeen
dc.subjectmental retardationen
dc.subjectbuccal cellsen
dc.subjectDNA extractionen
dc.titleScreening for fragile X syndrome among Brazilian mentally retarded male patients using PCR from buccal cell DNAen
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