Haplotype analysis and Agamma gene polymorphism associated with the Brazilian type of hereditary persistence of fetal hemoglobin

Detalhes bibliográficos
Autor(a) principal: Bordin, Silvana
Data de Publicação: 1998
Outros Autores: Martins, Juliana T, Gonçalves, Marilda de Souza, Melo, Mônica B
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da FIOCRUZ (ARCA)
Texto Completo: https://www.arca.fiocruz.br/handle/icict/19330
Resumo: Gonçalves, Marilda de Souza “Documento produzido em parceria ou por autor vinculado à Fiocruz, mas não consta à informação no documento”.
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spelling Bordin, SilvanaMartins, Juliana TGonçalves, Marilda de SouzaMelo, Mônica B2017-06-06T17:35:34Z2017-06-06T17:35:34Z1998BORDIN, S. et al. Haplotype analysis and Agamma gene polymorphism associated with the Brazilian type of hereditary persistence of fetal hemoglobin. American Journal of Hematology, v. 58, p. 49–54, 1998.0361-8609https://www.arca.fiocruz.br/handle/icict/19330Gonçalves, Marilda de Souza “Documento produzido em parceria ou por autor vinculado à Fiocruz, mas não consta à informação no documento”.Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP); Contract grant number: 97/03433/95-0; Contract grant sponsor: Conselho Nacional de Desenvolvimento Científico e Tecnológico; Contract grant number: 300608/95-0.Universidade Estadual de Campinas. Faculdade de Ciências Médicas. Centro de Hematologia e Hemoterapia. Campinas, SP, BrasilUniversidade Estadual de Campinas. Faculdade de Ciências Médicas. Centro de Hematologia e Hemoterapia. Campinas, SP, BrasilUniversidade Estadual de Campinas. Faculdade de Ciências Médicas. Centro de Hematologia e Hemoterapia. Campinas, SP, BrasilUniversidade Estadual de Campinas. Faculdade de Ciências Médicas. Centro de Hematologia e Hemoterapia. Campinas, SP, BrasilUniversidade Estadual de Campinas. Faculdade de Ciências Médicas. Centro de Hematologia e Hemoterapia. Campinas, SP, Brasil / Universidade Estadual de Campinas. Faculdade de Ciências Médicas. Departamento de Clínica Médica. Campinas, SP, BrasilUniversidade Estadual de Campinas. Faculdade de Ciências Médicas. Centro de Hematologia e Hemoterapia. Campinas, SP, BrasilWe have identified three unrelated individuals and three members of a family with the non-deletion form of Ag–hereditary persistence of fetal hemoglobin (HPFH). Molecular analysis showed that each individual is a heterozygote for a previously described −195 Ag (C®G) mutation. The b-globin gene cluster was studied using the polymerase chain reaction and related techniques. Haplotyping using nine restriction sites identified two closely related chromosomes with the −195 Ag mutation, differing only in a single site 3* to the b-globin gene. Further analysis of b-globin framework indicated that the HPFH allele segregates with haplotype V, according to Orkin’s classification. The second haplotype probably originated by a point mutation or DNA rearrangement of a pre-existing −195Ag chromosome. We also determined the sequences from −622 to +55 bp upstream to the Ag gene and part of the Ag IVS-2. We found four polymorphisms associated to the −195Ag promoter region. All −195 A g chromosomes had a G at positions −588 and +25 relative to the Ag gene. One individual was also homozygous for polymorphisms at −398 (G®A), and another at −369 (C®G). Cloning and sequencing of the polymorphic patterns of the 3* region of Ag IVS-2 showed that the mutated allele is linked to b-globin chromosome B. Some correlations between chromosome characteristics and Ag point mutations were also observed.engWileyHemoglobina fetalMutação puntualHaplótiposHereditary persistence of fetal hemoglobin (HPFH)Point mutationHaplotypesHemoglobina fetalMutação puntualHaplótiposPolimorfismoHaplotype analysis and Agamma gene polymorphism associated with the Brazilian type of hereditary persistence of fetal hemoglobininfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleinfo: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/19330/1/license.txt5a560609d32a3863062d77ff32785d58MD51ORIGINALBordin S Heplotype analysis and agamma....pdfBordin S Heplotype analysis and 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dc.title.pt_BR.fl_str_mv Haplotype analysis and Agamma gene polymorphism associated with the Brazilian type of hereditary persistence of fetal hemoglobin
title Haplotype analysis and Agamma gene polymorphism associated with the Brazilian type of hereditary persistence of fetal hemoglobin
spellingShingle Haplotype analysis and Agamma gene polymorphism associated with the Brazilian type of hereditary persistence of fetal hemoglobin
Bordin, Silvana
Hemoglobina fetal
Mutação puntual
Haplótipos
Hereditary persistence of fetal hemoglobin (HPFH)
Point mutation
Haplotypes
Hemoglobina fetal
Mutação puntual
Haplótipos
Polimorfismo
title_short Haplotype analysis and Agamma gene polymorphism associated with the Brazilian type of hereditary persistence of fetal hemoglobin
title_full Haplotype analysis and Agamma gene polymorphism associated with the Brazilian type of hereditary persistence of fetal hemoglobin
title_fullStr Haplotype analysis and Agamma gene polymorphism associated with the Brazilian type of hereditary persistence of fetal hemoglobin
title_full_unstemmed Haplotype analysis and Agamma gene polymorphism associated with the Brazilian type of hereditary persistence of fetal hemoglobin
title_sort Haplotype analysis and Agamma gene polymorphism associated with the Brazilian type of hereditary persistence of fetal hemoglobin
author Bordin, Silvana
author_facet Bordin, Silvana
Martins, Juliana T
Gonçalves, Marilda de Souza
Melo, Mônica B
author_role author
author2 Martins, Juliana T
Gonçalves, Marilda de Souza
Melo, Mônica B
author2_role author
author
author
dc.contributor.author.fl_str_mv Bordin, Silvana
Martins, Juliana T
Gonçalves, Marilda de Souza
Melo, Mônica B
dc.subject.other.pt_BR.fl_str_mv Hemoglobina fetal
Mutação puntual
Haplótipos
topic Hemoglobina fetal
Mutação puntual
Haplótipos
Hereditary persistence of fetal hemoglobin (HPFH)
Point mutation
Haplotypes
Hemoglobina fetal
Mutação puntual
Haplótipos
Polimorfismo
dc.subject.en.pt_BR.fl_str_mv Hereditary persistence of fetal hemoglobin (HPFH)
Point mutation
Haplotypes
dc.subject.decs.pt_BR.fl_str_mv Hemoglobina fetal
Mutação puntual
Haplótipos
Polimorfismo
description Gonçalves, Marilda de Souza “Documento produzido em parceria ou por autor vinculado à Fiocruz, mas não consta à informação no documento”.
publishDate 1998
dc.date.issued.fl_str_mv 1998
dc.date.accessioned.fl_str_mv 2017-06-06T17:35:34Z
dc.date.available.fl_str_mv 2017-06-06T17:35:34Z
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 BORDIN, S. et al. Haplotype analysis and Agamma gene polymorphism associated with the Brazilian type of hereditary persistence of fetal hemoglobin. American Journal of Hematology, v. 58, p. 49–54, 1998.
dc.identifier.uri.fl_str_mv https://www.arca.fiocruz.br/handle/icict/19330
dc.identifier.issn.pt_BR.fl_str_mv 0361-8609
identifier_str_mv BORDIN, S. et al. Haplotype analysis and Agamma gene polymorphism associated with the Brazilian type of hereditary persistence of fetal hemoglobin. American Journal of Hematology, v. 58, p. 49–54, 1998.
0361-8609
url https://www.arca.fiocruz.br/handle/icict/19330
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 Wiley
publisher.none.fl_str_mv Wiley
dc.source.none.fl_str_mv reponame:Repositório Institucional da FIOCRUZ (ARCA)
instname:Fundação Oswaldo Cruz (FIOCRUZ)
instacron:FIOCRUZ
instname_str Fundação Oswaldo Cruz (FIOCRUZ)
instacron_str FIOCRUZ
institution FIOCRUZ
reponame_str Repositório Institucional da FIOCRUZ (ARCA)
collection Repositório Institucional da FIOCRUZ (ARCA)
bitstream.url.fl_str_mv https://www.arca.fiocruz.br/bitstream/icict/19330/1/license.txt
https://www.arca.fiocruz.br/bitstream/icict/19330/2/Bordin%20S%20Heplotype%20analysis%20and%20agamma....pdf
https://www.arca.fiocruz.br/bitstream/icict/19330/3/Bordin%20S%20Heplotype%20analysis%20and%20agamma....pdf.txt
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