Analysis of the DMPK gene CTG repeat in healthy Brazilians
Autor(a) principal: | |
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Data de Publicação: | 2007 |
Outros Autores: | , , |
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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Genetics and Molecular Biology |
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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 |
_version_ |
1752122380285640704 |