Analysis of the DMPK gene CTG repeat in healthy Brazilians

Detalhes bibliográficos
Autor(a) principal: Freitas, Silvia Regina Sampaio
Data de Publicação: 2007
Outros Autores: Cabello, Pedro H., Moura Neto, Rodrigo Soares, Duro, Luiz Alves
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da FIOCRUZ (ARCA)
Texto Completo: https://www.arca.fiocruz.br/handle/icict/37375
Resumo: Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Departamento de Genética. Rio de Janeiro, RJ, Brasil.
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spelling Freitas, Silvia Regina SampaioCabello, Pedro H.Moura Neto, Rodrigo SoaresDuro, Luiz Alves2019-11-26T12:31:43Z2019-11-26T12:31:43Z2007FREITAS, Silvia Regina Sampaio et al. Analysis of the DMPK gene CTG repeat in healthy Brazilians. Genetics and Molecular Biology, Ribeirão Preto, v. 30, n. 1, p. 14-16, 2007.1415-4757https://www.arca.fiocruz.br/handle/icict/3737510.1590/S1415-475720070001000041678-4685engSociedade Brasileira de GenéticaDistrofia miotônicaGene De DMPKMutação dinâmicaRepetição do trinucleotídeoRepetição do CTGMyotonic dystrophyDynamic mutationTrinucleotide repeatCTG repeatDMPK geneAnalysis of the DMPK gene CTG repeat in healthy Braziliansinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleFundação Oswaldo Cruz. Instituto Oswaldo Cruz. Departamento de Genética. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Departamento de Genética. Rio de Janeiro, RJ, Brasil.Universidade Federal do Rio de Janeiro. Departamento de Genética. Rio de Janeiro, RJ, Brasil.Universidade Federal do Rio de Janeiro. Instituto de Neurologia Deolindo Couto. Rio de Janeiro, RJ, Brasil.Myotonic dystrophy (DM) is a neuromuscular disorder caused by the expansion of the cytosine-thymine-guanine (CTG) repeat of the myotonic dystrophy protein kinase gene (DMPK). This repeat is highly polymorphic in healthy individuals [(CTG)5-37], and it has been proposed that expanded CTG alleles originated from larger sized normal alleles [(CTG)19-37]. According to this hypothesis, a positive correlation should be expected between the frequency of these large-sized normal alleles and the prevalence of the disorder in a population. We determined the distribution of CTG alleles of the DMPK gene in 156 healthy Brazilians from Rio de Janeiro city. Our analyses of 312 chromosomes detected 20 different alleles ranging in size from 5 to 27 CTG repeats, with 24 alleles having more than 18 repeats (7.69%). This frequency of (CTG)319 alleles observed in our population suggests that the prevalence of DM in Rio de Janeiro should not be different from the prevalence in European populations.info:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txtlicense.txttext/plain; charset=utf-82991https://www.arca.fiocruz.br/bitstream/icict/37375/1/license.txt5a560609d32a3863062d77ff32785d58MD51ORIGINALSilviaRFreitas_PedroHCabello_etal_IOC_2003.pdfSilviaRFreitas_PedroHCabello_etal_IOC_2003.pdfapplication/pdf66933https://www.arca.fiocruz.br/bitstream/icict/37375/2/SilviaRFreitas_PedroHCabello_etal_IOC_2003.pdf5220ceb781a8573065d3ac99397b279dMD52TEXTSilviaRFreitas_PedroHCabello_etal_IOC_2003.pdf.txtSilviaRFreitas_PedroHCabello_etal_IOC_2003.pdf.txtExtracted 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dc.title.pt_BR.fl_str_mv Analysis of the DMPK gene CTG repeat in healthy Brazilians
title Analysis of the DMPK gene CTG repeat in healthy Brazilians
spellingShingle Analysis of the DMPK gene CTG repeat in healthy Brazilians
Freitas, Silvia Regina Sampaio
Distrofia miotônica
Gene De DMPK
Mutação dinâmica
Repetição do trinucleotídeo
Repetição do CTG
Myotonic dystrophy
Dynamic mutation
Trinucleotide repeat
CTG repeat
DMPK gene
title_short Analysis of the DMPK gene CTG repeat in healthy Brazilians
title_full Analysis of the DMPK gene CTG repeat in healthy Brazilians
title_fullStr Analysis of the DMPK gene CTG repeat in healthy Brazilians
title_full_unstemmed Analysis of the DMPK gene CTG repeat in healthy Brazilians
title_sort Analysis of the DMPK gene CTG repeat in healthy Brazilians
author Freitas, Silvia Regina Sampaio
author_facet Freitas, Silvia Regina Sampaio
Cabello, Pedro H.
Moura Neto, Rodrigo Soares
Duro, Luiz Alves
author_role author
author2 Cabello, Pedro H.
Moura Neto, Rodrigo Soares
Duro, Luiz Alves
author2_role author
author
author
dc.contributor.author.fl_str_mv Freitas, Silvia Regina Sampaio
Cabello, Pedro H.
Moura Neto, Rodrigo Soares
Duro, Luiz Alves
dc.subject.other.pt_BR.fl_str_mv Distrofia miotônica
Gene De DMPK
Mutação dinâmica
Repetição do trinucleotídeo
Repetição do CTG
topic Distrofia miotônica
Gene De DMPK
Mutação dinâmica
Repetição do trinucleotídeo
Repetição do CTG
Myotonic dystrophy
Dynamic mutation
Trinucleotide repeat
CTG repeat
DMPK gene
dc.subject.en.pt_BR.fl_str_mv Myotonic dystrophy
Dynamic mutation
Trinucleotide repeat
CTG repeat
DMPK gene
description Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Departamento de Genética. Rio de Janeiro, RJ, Brasil.
publishDate 2007
dc.date.issued.fl_str_mv 2007
dc.date.accessioned.fl_str_mv 2019-11-26T12:31:43Z
dc.date.available.fl_str_mv 2019-11-26T12:31:43Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.citation.fl_str_mv FREITAS, Silvia Regina Sampaio et al. Analysis of the DMPK gene CTG repeat in healthy Brazilians. Genetics and Molecular Biology, Ribeirão Preto, v. 30, n. 1, p. 14-16, 2007.
dc.identifier.uri.fl_str_mv https://www.arca.fiocruz.br/handle/icict/37375
dc.identifier.issn.pt_BR.fl_str_mv 1415-4757
dc.identifier.doi.none.fl_str_mv 10.1590/S1415-47572007000100004
dc.identifier.eissn.none.fl_str_mv 1678-4685
identifier_str_mv FREITAS, Silvia Regina Sampaio et al. Analysis of the DMPK gene CTG repeat in healthy Brazilians. Genetics and Molecular Biology, Ribeirão Preto, v. 30, n. 1, p. 14-16, 2007.
1415-4757
10.1590/S1415-47572007000100004
1678-4685
url https://www.arca.fiocruz.br/handle/icict/37375
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Sociedade Brasileira de Genética
publisher.none.fl_str_mv Sociedade Brasileira de Genética
dc.source.none.fl_str_mv reponame:Repositório Institucional da FIOCRUZ (ARCA)
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instacron:FIOCRUZ
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instacron_str FIOCRUZ
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https://www.arca.fiocruz.br/bitstream/icict/37375/2/SilviaRFreitas_PedroHCabello_etal_IOC_2003.pdf
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