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AuthorMulatinho, Milene V.
AuthorLlerena Junior, Juan Clinton
AuthorPimentel, Marcia M. G.
Access date2013-02-22T18:55:53Z
Available date2013-02-22T18:55:53Z
Document date2000
CitationMULATINHO, Milene V.; LLERENA JUNIOR, Juan Clinton; PIMENTEL, Márcia M.G. FRAXA screening in brazilian institutionalized individuals with nonspecific severe mental retardation. Genetic Testing, [S.l], v. 4, n. 3, 2000.pt_BR
URIhttps://www.arca.fiocruz.br/handle/icict/6331
SponsorshipCNPq, CAPES, CEPUERJ, FAPERJpt_BR
Languageengpt_BR
PublisherMary Ann Liebertpt_BR
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TitleFRAXA screening in brazilian institutionalized individuals with nonspecific severe mental retardationpt_BR
TypeArticle
AbstractIndividuals with mental disabilities are a heterogeneous group, mainly when we consider the etiology of mental retardation (MR). Recent advances in molecular genetics techniques have enabled us to unveil more about the molecular basis of several genetic syndromes associated with MR. In this study, we surveyed 85 institutionalized individuals with severe MR, 38 males and 47 females, by two molecular techniques, to detect CGG amplifications in the FMR1 gene. No FRAXA mutations were found in the FMR1 gene, reinforcing the low prevalence of Fragile X syndrome among institutionalized individuals with severe MR. We considered the PCR protocol used adequate for screening males with mental retardation of unknown etiology. The use of the Southern blot is still necessary for the decisive diagnosis of the Fragile X syndrome. To exclude chromosomal abnormalities associated with MR as a possible cause of the phenotype in these individuals, G-banded chromosome analysis was performed in all patients and 7.3% of chromosomal aberrations were found. Our results are similar to those reported previously and point to the necessity of expanding the molecular investigation toward other causes of MR, such as subtle chromosomal rearrangements, as suggested recent by a combination of fluorescence in situ hybridization (FISH) and PCR studies.pt_BR
AffilliationUniversidade do Estado do Rio de Janeiro. Departamento de Biologia Celular e Genética. Rio de Janeiro, RJ, Brasilpt_BR
AffilliationFundação Oswaldo Cruz.Instituto Fernandes Figueira. Departamento de Genética Médica. Rio de Janeiro, RJ, Brasilpt_BR
AffilliationUniversidade do Estado do Rio de Janeiro. Departamento de Biologia Celular e Genética. Rio de Janeiro, RJ, Brasilpt_BR
DeCSSíndrome do Cromossomo X Frágilpt_BR
DeCSDeficiência Intelectualpt_BR


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