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dc.contributor.authorFerreira, Jorge Frank Braga-
dc.date.available2020-03-16-
dc.date.available2020-03-17T18:20:43Z-
dc.date.issued2016-01-29-
dc.identifier.urihttp://repositorioinstitucional.uea.edu.br//handle/riuea/2330-
dc.description.abstractFragile X Syndrome (FXS) is the main genetic condition associated to the development of Autism Spectrum Disorders (ASD) and hereditary Intellectual Deficiency (ID). Due to the variable expressivity of this syndrome and to its high prevalence among ASD patients, requiring screening tests for FXS is important for all individuals diagnosed with ASD and/or ID, because the presence of mutations in the FMR1 gene could lead to new options of treatment for the patient. In this study, the presence and the frequency of dynamic mutations in the FMR1 gene of 101 ASD patients has been verified by molecular analysis. There are few epidemiological data about the frequency of FXS in the Brazilian population and no study has already been performed in the State of Amazonas, so, this work provides a contribution to the prevalence of this syndrome in this Brazilian state. Keywords: FMR1. PCR. Dynamic mutation. CGG trinucleotide.pt_BR
dc.description.sponsorshipCoordenação de Aperfeiçoamento de Pessoal de Nível Superiorpt_BR
dc.languageporpt_BR
dc.publisherUniversidade do Estado do Amazonaspt_BR
dc.rightsAcesso Abertopt_BR
dc.rightsAtribuição-NãoComercial-SemDerivados 3.0 Brasil*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/3.0/br/*
dc.subjectFMR1pt_BR
dc.subjectPCRpt_BR
dc.subjectMutação dinâmicapt_BR
dc.subjectTrinucleotídeo CGGpt_BR
dc.titleInvestigação molecular da síndrome do x-frágil em portadores de transtornos do espectro autista na cidade de Manaus-Amazonaspt_BR
dc.typeDissertaçãopt_BR
dc.date.accessioned2020-03-17T18:20:43Z-
dc.contributor.advisor-co1Batista, Jacqueline da Silva-
dc.contributor.advisor-co1Latteshttp://lattes.cnpq.br/9560715515896160pt_BR
dc.contributor.advisor1Rezende, Cleiton Fantin-
dc.contributor.advisor1Latteshttp://lattes.cnpq.br/3982396993273580pt_BR
dc.contributor.referee1Rezende, Cleiton Fantin-
dc.contributor.referee1Latteshttp://lattes.cnpq.br/3982396993273580pt_BR
dc.contributor.referee2Santos, Joselita Maria Mendes dos-
dc.contributor.referee2Latteshttp://lattes.cnpq.br/8745534872253902pt_BR
dc.contributor.referee3Santos, Maria da Conceição Freitas dos-
dc.contributor.referee3Latteshttp://lattes.cnpq.br/7618353060771291pt_BR
dc.creator.Latteshttp://lattes.cnpq.br/9991534611891604pt_BR
dc.description.resumoA Síndrome do X-Frágil (SXF) representa a principal condição genética associada ao desenvolvimento de Transtornos do Espectro Autista (TEA) e de Deficiência Intelectual hereditária. Uma vez que esta síndrome apresenta expressividade variável e alta prevalência em portadores de Transtornos do Espectro Autista, os testes de triagem para a SXF se fazem necessários para todos os indivíduos diagnosticados com TEA e/ou com Deficiência Intelectual, pois a observação de mutações no gene FMR1 pode levar a novas opções de tratamento do paciente. Neste estudo, foram verificadas a presença e a frequência de mutações dinâmicas no gene FMR1 de 101 indivíduos diagnosticados com TEA, por meio da análise molecular. Devido à carência de dados epidemiológicos sobre a SXF com a população brasileira e à ausência de estudos já realizados com a população do Estado do Amazonas, este trabalho representa uma contribuição sobre a frequência desta síndrome na população deste Estado brasileiro. Palavras-chave: FMR1. PCR. Mutação dinâmica. Trinucleotídeo CGG.pt_BR
dc.publisher.countryBrasilpt_BR
dc.publisher.programPrograma de Pós-Graduação em Biotecnologia e Recursos Naturaispt_BR
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dc.subject.cnpqBiotecnologiapt_BR
dc.publisher.initialsUEApt_BR
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