The molecular basis of dominantly inherited beta-thalassemia.
Autor(a) principal: | |
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Data de Publicação: | 1999 |
Outros Autores: | , , , |
Tipo de documento: | Artigo |
Idioma: | por |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/2153 |
Resumo: | In this study, we sought to clarity the molecular basis of a dominant inherited beta-thalassemia, found in heterozygosity in a northern Portuguese family with thalassemia intermedia. We characterized: i) the alpha-globin gene cluster structure; ii) the beta-globin gene cluster haplotype; and iii) the beta-thalassemia mutation. The alpha-globin gene cluster was structurally normal. The G-->T transversion at codon 121 of the beta-globin gene was found in the affected individuals in association with Orkin's haplotype V. This is an uncommon, though ubiquitous, mutation. Which has also been found, in association with different haplotypes, in several distant populations. It has only been observed in this three-generation family, in the Portuguese population. We suggest a mechanism to explain the genotype/phenotype correlation. |
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The molecular basis of dominantly inherited beta-thalassemia.Base molecular de uma beta-talassémia de transmissão dominante.In this study, we sought to clarity the molecular basis of a dominant inherited beta-thalassemia, found in heterozygosity in a northern Portuguese family with thalassemia intermedia. We characterized: i) the alpha-globin gene cluster structure; ii) the beta-globin gene cluster haplotype; and iii) the beta-thalassemia mutation. The alpha-globin gene cluster was structurally normal. The G-->T transversion at codon 121 of the beta-globin gene was found in the affected individuals in association with Orkin's haplotype V. This is an uncommon, though ubiquitous, mutation. Which has also been found, in association with different haplotypes, in several distant populations. It has only been observed in this three-generation family, in the Portuguese population. We suggest a mechanism to explain the genotype/phenotype correlation.In this study, we sought to clarity the molecular basis of a dominant inherited beta-thalassemia, found in heterozygosity in a northern Portuguese family with thalassemia intermedia. We characterized: i) the alpha-globin gene cluster structure; ii) the beta-globin gene cluster haplotype; and iii) the beta-thalassemia mutation. The alpha-globin gene cluster was structurally normal. The G-->T transversion at codon 121 of the beta-globin gene was found in the affected individuals in association with Orkin's haplotype V. This is an uncommon, though ubiquitous, mutation. Which has also been found, in association with different haplotypes, in several distant populations. It has only been observed in this three-generation family, in the Portuguese population. We suggest a mechanism to explain the genotype/phenotype correlation.Ordem dos Médicos1999-11-30info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/2153oai:ojs.www.actamedicaportuguesa.com:article/2153Acta Médica Portuguesa; Vol. 12 No. 7-11 (1999): Julho-Novembro; 293-6Acta Médica Portuguesa; Vol. 12 N.º 7-11 (1999): Julho-Novembro; 293-61646-07580870-399Xreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPporhttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/2153https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/2153/1595Faustino, PBarbot, JGonçalves, JPeres, M JLavinha, Jinfo:eu-repo/semantics/openAccess2022-12-20T10:59:53Zoai:ojs.www.actamedicaportuguesa.com:article/2153Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T16:17:33.857570Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
The molecular basis of dominantly inherited beta-thalassemia. Base molecular de uma beta-talassémia de transmissão dominante. |
title |
The molecular basis of dominantly inherited beta-thalassemia. |
spellingShingle |
The molecular basis of dominantly inherited beta-thalassemia. Faustino, P |
title_short |
The molecular basis of dominantly inherited beta-thalassemia. |
title_full |
The molecular basis of dominantly inherited beta-thalassemia. |
title_fullStr |
The molecular basis of dominantly inherited beta-thalassemia. |
title_full_unstemmed |
The molecular basis of dominantly inherited beta-thalassemia. |
title_sort |
The molecular basis of dominantly inherited beta-thalassemia. |
author |
Faustino, P |
author_facet |
Faustino, P Barbot, J Gonçalves, J Peres, M J Lavinha, J |
author_role |
author |
author2 |
Barbot, J Gonçalves, J Peres, M J Lavinha, J |
author2_role |
author author author author |
dc.contributor.author.fl_str_mv |
Faustino, P Barbot, J Gonçalves, J Peres, M J Lavinha, J |
description |
In this study, we sought to clarity the molecular basis of a dominant inherited beta-thalassemia, found in heterozygosity in a northern Portuguese family with thalassemia intermedia. We characterized: i) the alpha-globin gene cluster structure; ii) the beta-globin gene cluster haplotype; and iii) the beta-thalassemia mutation. The alpha-globin gene cluster was structurally normal. The G-->T transversion at codon 121 of the beta-globin gene was found in the affected individuals in association with Orkin's haplotype V. This is an uncommon, though ubiquitous, mutation. Which has also been found, in association with different haplotypes, in several distant populations. It has only been observed in this three-generation family, in the Portuguese population. We suggest a mechanism to explain the genotype/phenotype correlation. |
publishDate |
1999 |
dc.date.none.fl_str_mv |
1999-11-30 |
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 |
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/2153 oai:ojs.www.actamedicaportuguesa.com:article/2153 |
url |
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/2153 |
identifier_str_mv |
oai:ojs.www.actamedicaportuguesa.com:article/2153 |
dc.language.iso.fl_str_mv |
por |
language |
por |
dc.relation.none.fl_str_mv |
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/2153 https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/2153/1595 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Ordem dos Médicos |
publisher.none.fl_str_mv |
Ordem dos Médicos |
dc.source.none.fl_str_mv |
Acta Médica Portuguesa; Vol. 12 No. 7-11 (1999): Julho-Novembro; 293-6 Acta Médica Portuguesa; Vol. 12 N.º 7-11 (1999): Julho-Novembro; 293-6 1646-0758 0870-399X reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
repository.mail.fl_str_mv |
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1799130628529061888 |