Investigação molecular da síndrome do x-frágil em portadores de transtornos do espectro autista na cidade de Manaus-Amazonas

Detalhes bibliográficos
Ano de defesa: 2016
Autor(a) principal: Ferreira, Jorge Frank Braga
Orientador(a): Não Informado pela instituição
Banca de defesa: Não Informado pela instituição
Tipo de documento: Dissertação
Tipo de acesso: Acesso aberto
Idioma: por
Instituição de defesa: Universidade do Estado do Amazonas
Brasil
UEA
Programa de Pós-Graduação em Biotecnologia e Recursos Naturais
Programa de Pós-Graduação: Não Informado pela instituição
Departamento: Não Informado pela instituição
País: Não Informado pela instituição
Palavras-chave em Português:
FMR1
PCR
Mutação dinâmica
Trinucleotídeo CGG
Biotecnologia
Link de acesso: https://ri.uea.edu.br/handle/riuea/2189
Resumo: Fragile 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.
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spelling Investigação molecular da síndrome do x-frágil em portadores de transtornos do espectro autista na cidade de Manaus-AmazonasFMR1PCRMutação dinâmicaTrinucleotídeo CGGBiotecnologiaFragile 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.Coordenação de Aperfeiçoamento de Pessoal de Nível SuperiorA 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.Universidade do Estado do AmazonasBrasilUEAPrograma de Pós-Graduação em Biotecnologia e Recursos NaturaisRezende, Cleiton FantinBatista, Jacqueline da SilvaRezende, Cleiton FantinSantos, Joselita Maria Mendes dosSantos, Maria da Conceição Freitas dosFerreira, Jorge Frank Braga2020-03-17T18:20:43Z2024-09-05T17:30:28Z2020-03-162020-03-17T18:20:43Z2016-01-29info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/masterThesisapplication/pdfhttps://ri.uea.edu.br/handle/riuea/2189porAAIDD American Association on Intellectual and Developmental Disorders. Disponível em: http://aaidd.org/intellectual-disability/definition/faqs-on-intellectualdisability#.VMpiyWjF9qU. Acesso em: 29 jan. 2015. ABBEDUTO, Leonard; MCDUFFIE, Andrea; THURMAN, Angela J.; The fragile X syndrome-autism comorbidity: what do we really know? Frontiers in Genetics, n. October, p. 1-10, out. 2014. AMÂNCIO, Andrea Pires. Análise molecular de pacientes com suspeita da síndrome do X-Frágil. 2013. 75p. Dissertação (Mestrado em Genética – Pontifícia Universidade Católica de Goiás), Goiânia, Goiás, 2013. BAGNI, Claudia et al. Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics. The Journal of Clinical Investigation, v.122, n.12, p.4314-22, dez. 2012. BARON-COHEN, Simon et al. Why are autism spectrum condition more prevalent in males? PLoS Biology, v. 9, n.6, p.1-10, jun. 2011. BONAVENTURE, G et al. Fragile X founder effect found in Argentine. American Journal of Medical Genetics, v.79, p.200-204, 1998. BOURGEOIS, James et al. A review of fragile X premutation disorders: expanding the psychiatric perspective. The Journal of Clinical Psychiatry, v. 70, n. 6, p. 852–62, jun. 2009. BROWN, W.T. et al. Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test. Journal of the American Medical Association, v. 270, p.1569-1575, 1993. BUYLE, Sonja et al. Founder effect in a Belgian-Dutch fragile x population. Human Genetics, v.92, p.269-272, 1993. 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Annals of Human Genetics, v.70, p.784–796, 2006Atribuição-NãoComercial-SemDerivados 3.0 Brasilinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da Universidade do Estado do Amazonas (UEA)instname:Universidade do Estado do Amazonas (UEA)instacron:UEA2024-09-05T17:41:03Zoai:ri.uea.edu.br:riuea/2189Repositório InstitucionalPUBhttps://ri.uea.edu.br/server/oai/requestbibliotecacentral@uea.edu.bropendoar:2024-09-05T17:41:03Repositório Institucional da Universidade do Estado do Amazonas (UEA) - Universidade do Estado do Amazonas (UEA)false
dc.title.none.fl_str_mv Investigação molecular da síndrome do x-frágil em portadores de transtornos do espectro autista na cidade de Manaus-Amazonas
title Investigação molecular da síndrome do x-frágil em portadores de transtornos do espectro autista na cidade de Manaus-Amazonas
spellingShingle Investigação molecular da síndrome do x-frágil em portadores de transtornos do espectro autista na cidade de Manaus-Amazonas
Ferreira, Jorge Frank Braga
FMR1
PCR
Mutação dinâmica
Trinucleotídeo CGG
Biotecnologia
title_short Investigação molecular da síndrome do x-frágil em portadores de transtornos do espectro autista na cidade de Manaus-Amazonas
title_full Investigação molecular da síndrome do x-frágil em portadores de transtornos do espectro autista na cidade de Manaus-Amazonas
title_fullStr Investigação molecular da síndrome do x-frágil em portadores de transtornos do espectro autista na cidade de Manaus-Amazonas
title_full_unstemmed Investigação molecular da síndrome do x-frágil em portadores de transtornos do espectro autista na cidade de Manaus-Amazonas
title_sort Investigação molecular da síndrome do x-frágil em portadores de transtornos do espectro autista na cidade de Manaus-Amazonas
author Ferreira, Jorge Frank Braga
author_facet Ferreira, Jorge Frank Braga
author_role author
dc.contributor.none.fl_str_mv Rezende, Cleiton Fantin
Batista, Jacqueline da Silva
Rezende, Cleiton Fantin
Santos, Joselita Maria Mendes dos
Santos, Maria da Conceição Freitas dos
dc.contributor.author.fl_str_mv Ferreira, Jorge Frank Braga
dc.subject.por.fl_str_mv FMR1
PCR
Mutação dinâmica
Trinucleotídeo CGG
Biotecnologia
topic FMR1
PCR
Mutação dinâmica
Trinucleotídeo CGG
Biotecnologia
description Fragile 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.
publishDate 2016
dc.date.none.fl_str_mv 2016-01-29
2020-03-17T18:20:43Z
2020-03-16
2020-03-17T18:20:43Z
2024-09-05T17:30:28Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/masterThesis
format masterThesis
status_str publishedVersion
dc.identifier.uri.fl_str_mv https://ri.uea.edu.br/handle/riuea/2189
url https://ri.uea.edu.br/handle/riuea/2189
dc.language.iso.fl_str_mv por
language por
dc.relation.none.fl_str_mv AAIDD American Association on Intellectual and Developmental Disorders. Disponível em: http://aaidd.org/intellectual-disability/definition/faqs-on-intellectualdisability#.VMpiyWjF9qU. Acesso em: 29 jan. 2015. ABBEDUTO, Leonard; MCDUFFIE, Andrea; THURMAN, Angela J.; The fragile X syndrome-autism comorbidity: what do we really know? Frontiers in Genetics, n. October, p. 1-10, out. 2014. AMÂNCIO, Andrea Pires. Análise molecular de pacientes com suspeita da síndrome do X-Frágil. 2013. 75p. Dissertação (Mestrado em Genética – Pontifícia Universidade Católica de Goiás), Goiânia, Goiás, 2013. BAGNI, Claudia et al. Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics. The Journal of Clinical Investigation, v.122, n.12, p.4314-22, dez. 2012. BARON-COHEN, Simon et al. Why are autism spectrum condition more prevalent in males? PLoS Biology, v. 9, n.6, p.1-10, jun. 2011. BONAVENTURE, G et al. Fragile X founder effect found in Argentine. 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Descrições Clínicas e Diretrizes Diagnósticas – Coord. Organiz. Mund. Da Saúde. Porto Alegre: Artmed, 1993. 49 COLLINS, Stephen C. et al. Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype. PloS one, v.5, n.3, p. e9476, jan. 2010. CRONISTER, Amy et al. Prevalence and instability of fragile X alleles: implications for offering fragile X prenatal diagnosis. Obstetrics and Gynecology, v. 111, n. 3, p. 596– 601, mar. 2008. DARNELL, Jeniffer C.; KLANN, Eric. The translation of translational control by FMRP: theraupeutic targets of FXS. Nature Neuroscience, v. 16, p. 1530-1536, maio 2013. DE DIEGO, Yolanda et al. Fragile x founder effect and distribution of cgg repeats among the mentally retarded population of Andalusia, South Spain. Genetics and Molecular Biology, v.25, p.1-6, 2002. DE ESCH, Celine E. F.; ZEIDLER, Shimriet.; WILLEMSEN, Rob. Translational endpoints in fragile X syndrome. 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dc.publisher.none.fl_str_mv Universidade do Estado do Amazonas
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Programa de Pós-Graduação em Biotecnologia e Recursos Naturais
publisher.none.fl_str_mv Universidade do Estado do Amazonas
Brasil
UEA
Programa de Pós-Graduação em Biotecnologia e Recursos Naturais
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