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: Genetics and Molecular Biology
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000100004
Resumo: 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)3(19) 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.
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spelling Analysis of the DMPK gene CTG repeat in healthy Braziliansmyotonic dystrophydynamic mutationtrinucleotide repeatCTG repeatDMPK geneMyotonic 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)3(19) 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.Sociedade Brasileira de Genética2007-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000100004Genetics and Molecular Biology v.30 n.1 2007reponame:Genetics and Molecular Biologyinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/S1415-47572007000100004info:eu-repo/semantics/openAccessFreitas,Silvia Regina SampaioCabello,Pedro H.Moura-Neto,Rodrigo SoaresDuro,Luiz Alveseng2007-03-26T00:00:00Zoai:scielo:S1415-47572007000100004Revistahttp://www.gmb.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||editor@gmb.org.br1678-46851415-4757opendoar:2007-03-26T00:00Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)false
dc.title.none.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
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.por.fl_str_mv myotonic dystrophy
dynamic mutation
trinucleotide repeat
CTG repeat
DMPK gene
topic myotonic dystrophy
dynamic mutation
trinucleotide repeat
CTG repeat
DMPK gene
description 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)3(19) 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.
publishDate 2007
dc.date.none.fl_str_mv 2007-01-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000100004
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000100004
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S1415-47572007000100004
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
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 Genetics and Molecular Biology v.30 n.1 2007
reponame:Genetics and Molecular Biology
instname:Sociedade Brasileira de Genética (SBG)
instacron:SBG
instname_str Sociedade Brasileira de Genética (SBG)
instacron_str SBG
institution SBG
reponame_str Genetics and Molecular Biology
collection Genetics and Molecular Biology
repository.name.fl_str_mv Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)
repository.mail.fl_str_mv ||editor@gmb.org.br
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