Gene mutations in esophageal mucosa of chagas disease patients

Detalhes bibliográficos
Autor(a) principal: Manoel-Caetano, Fernanda DA Silva [UNESP]
Data de Publicação: 2009
Outros Autores: Silveira, Aparecida F. P. [UNESP], Silva, Ana Elizabete [UNESP]
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UNESP
Texto Completo: http://hdl.handle.net/11449/225457
Resumo: Background: Chagas disease patients with longstanding megaesophagus have a significantly increased risk for esophageal carcinoma. Materials and Methods: PCR- SSCP analysis and DNA sequencing of esophageal mucosa from Chagas disease patients (with or without megaesophagus) in the exons of the TPS3, CDKN2A and FHIT genes were performed. Results: SSCP analysis showed a mobility shift in 2/20 patients with grade TV megaesophagus (CDKN2A exon 1 and FHIT exon 7) and in 1/10 patients without megaesophagus (TP53 exons 5 and 8). However, DNA sequencing indicated a silent mutation in exon 7 of the FHIT gene (GCT → GCC) in codon 88 in only one case of megaesophagus. Conclusion: Gene mutations are rare events in the exons investigated in esophageal mucosa of Chagas disease patients and further investigations are important to clarify the possible involvement of this silent mutation in exon 7 (FHIT gene) in the advanced grades of megaesophagus and esophageal carcinogenesis.
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spelling Gene mutations in esophageal mucosa of chagas disease patientsCdkn2a geneChagas diseaseDna sequencingFhitgeneMegaesophagus, gene mutationSingle nucleotide polymorphism (snp)Tp53 geneBackground: Chagas disease patients with longstanding megaesophagus have a significantly increased risk for esophageal carcinoma. Materials and Methods: PCR- SSCP analysis and DNA sequencing of esophageal mucosa from Chagas disease patients (with or without megaesophagus) in the exons of the TPS3, CDKN2A and FHIT genes were performed. Results: SSCP analysis showed a mobility shift in 2/20 patients with grade TV megaesophagus (CDKN2A exon 1 and FHIT exon 7) and in 1/10 patients without megaesophagus (TP53 exons 5 and 8). However, DNA sequencing indicated a silent mutation in exon 7 of the FHIT gene (GCT → GCC) in codon 88 in only one case of megaesophagus. Conclusion: Gene mutations are rare events in the exons investigated in esophageal mucosa of Chagas disease patients and further investigations are important to clarify the possible involvement of this silent mutation in exon 7 (FHIT gene) in the advanced grades of megaesophagus and esophageal carcinogenesis.Department of Biology UNESP São Paulo State University, São José do Rio Preto, SPUniversidade Estadual Paulista Departamento de Biologia, Rua Cristóvão Colombo, 2265, CEP: 15054-000, São José do Rio Preto, SPDepartment of Biology UNESP São Paulo State University, São José do Rio Preto, SPUniversidade Estadual Paulista Departamento de Biologia, Rua Cristóvão Colombo, 2265, CEP: 15054-000, São José do Rio Preto, SPUniversidade Estadual Paulista (UNESP)Manoel-Caetano, Fernanda DA Silva [UNESP]Silveira, Aparecida F. P. [UNESP]Silva, Ana Elizabete [UNESP]2022-04-28T20:51:10Z2022-04-28T20:51:10Z2009-04-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article1243-1248Anticancer Research, v. 29, n. 4, p. 1243-1248, 2009.0250-7005http://hdl.handle.net/11449/2254572-s2.0-64949187915Scopusreponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengAnticancer Researchinfo:eu-repo/semantics/openAccess2022-04-28T20:51:10Zoai:repositorio.unesp.br:11449/225457Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462024-08-05T17:59:55.192670Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false
dc.title.none.fl_str_mv Gene mutations in esophageal mucosa of chagas disease patients
title Gene mutations in esophageal mucosa of chagas disease patients
spellingShingle Gene mutations in esophageal mucosa of chagas disease patients
Manoel-Caetano, Fernanda DA Silva [UNESP]
Cdkn2a gene
Chagas disease
Dna sequencing
Fhitgene
Megaesophagus, gene mutation
Single nucleotide polymorphism (snp)
Tp53 gene
title_short Gene mutations in esophageal mucosa of chagas disease patients
title_full Gene mutations in esophageal mucosa of chagas disease patients
title_fullStr Gene mutations in esophageal mucosa of chagas disease patients
title_full_unstemmed Gene mutations in esophageal mucosa of chagas disease patients
title_sort Gene mutations in esophageal mucosa of chagas disease patients
author Manoel-Caetano, Fernanda DA Silva [UNESP]
author_facet Manoel-Caetano, Fernanda DA Silva [UNESP]
Silveira, Aparecida F. P. [UNESP]
Silva, Ana Elizabete [UNESP]
author_role author
author2 Silveira, Aparecida F. P. [UNESP]
Silva, Ana Elizabete [UNESP]
author2_role author
author
dc.contributor.none.fl_str_mv Universidade Estadual Paulista (UNESP)
dc.contributor.author.fl_str_mv Manoel-Caetano, Fernanda DA Silva [UNESP]
Silveira, Aparecida F. P. [UNESP]
Silva, Ana Elizabete [UNESP]
dc.subject.por.fl_str_mv Cdkn2a gene
Chagas disease
Dna sequencing
Fhitgene
Megaesophagus, gene mutation
Single nucleotide polymorphism (snp)
Tp53 gene
topic Cdkn2a gene
Chagas disease
Dna sequencing
Fhitgene
Megaesophagus, gene mutation
Single nucleotide polymorphism (snp)
Tp53 gene
description Background: Chagas disease patients with longstanding megaesophagus have a significantly increased risk for esophageal carcinoma. Materials and Methods: PCR- SSCP analysis and DNA sequencing of esophageal mucosa from Chagas disease patients (with or without megaesophagus) in the exons of the TPS3, CDKN2A and FHIT genes were performed. Results: SSCP analysis showed a mobility shift in 2/20 patients with grade TV megaesophagus (CDKN2A exon 1 and FHIT exon 7) and in 1/10 patients without megaesophagus (TP53 exons 5 and 8). However, DNA sequencing indicated a silent mutation in exon 7 of the FHIT gene (GCT → GCC) in codon 88 in only one case of megaesophagus. Conclusion: Gene mutations are rare events in the exons investigated in esophageal mucosa of Chagas disease patients and further investigations are important to clarify the possible involvement of this silent mutation in exon 7 (FHIT gene) in the advanced grades of megaesophagus and esophageal carcinogenesis.
publishDate 2009
dc.date.none.fl_str_mv 2009-04-01
2022-04-28T20:51:10Z
2022-04-28T20:51:10Z
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.uri.fl_str_mv Anticancer Research, v. 29, n. 4, p. 1243-1248, 2009.
0250-7005
http://hdl.handle.net/11449/225457
2-s2.0-64949187915
identifier_str_mv Anticancer Research, v. 29, n. 4, p. 1243-1248, 2009.
0250-7005
2-s2.0-64949187915
url http://hdl.handle.net/11449/225457
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Anticancer Research
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 1243-1248
dc.source.none.fl_str_mv Scopus
reponame:Repositório Institucional da UNESP
instname:Universidade Estadual Paulista (UNESP)
instacron:UNESP
instname_str Universidade Estadual Paulista (UNESP)
instacron_str UNESP
institution UNESP
reponame_str Repositório Institucional da UNESP
collection Repositório Institucional da UNESP
repository.name.fl_str_mv Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)
repository.mail.fl_str_mv
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