Combination of two rare mutations causes β-thalassaemia in a Bangladeshi patient

Detalhes bibliográficos
Autor(a) principal: Moosa,Mahdi Muhammad
Data de Publicação: 2011
Outros Autores: Ayub,Mustak Ibn, Bashar,AMA Emran, Sarwardi,Golam, Khan,Waqar, Khan,Haseena, Yeasmin,Sabina
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=S1415-47572011000300006
Resumo: Screening of mutations that cause β-thalassaemia in the Bangladeshi population led to the identification of a patient with a combination of two rare mutations, Hb Monroe and HBB: -92C>G.The β-thalassaemia major male individual was transfusion-dependent and had an atypical β-globin gene cluster haplotype. Of the two mutations, Hb Monroe has been characterized in detail. Clinical effects of the other mutation, HBB: -92C>G,are unknown so far. Bioinformatics analyses were carried out to predict the possible effect of this mutation. These analyses revealed the presence of a putative binding site for Egr1, a transcription factor, within the HBB:-92 region. Our literature survey suggests a close relationship between different phenotypic manifestations of β-thalassaemia and Egr1 expression.
id SBG-1_03344136bef18b02bc7d1003b9783dba
oai_identifier_str oai:scielo:S1415-47572011000300006
network_acronym_str SBG-1
network_name_str Genetics and Molecular Biology
repository_id_str
spelling Combination of two rare mutations causes β-thalassaemia in a Bangladeshi patientHb MonroeHBB: -92C>Gtranscription factorEgr1Screening of mutations that cause β-thalassaemia in the Bangladeshi population led to the identification of a patient with a combination of two rare mutations, Hb Monroe and HBB: -92C>G.The β-thalassaemia major male individual was transfusion-dependent and had an atypical β-globin gene cluster haplotype. Of the two mutations, Hb Monroe has been characterized in detail. Clinical effects of the other mutation, HBB: -92C>G,are unknown so far. Bioinformatics analyses were carried out to predict the possible effect of this mutation. These analyses revealed the presence of a putative binding site for Egr1, a transcription factor, within the HBB:-92 region. Our literature survey suggests a close relationship between different phenotypic manifestations of β-thalassaemia and Egr1 expression.Sociedade Brasileira de Genética2011-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000300006Genetics and Molecular Biology v.34 n.3 2011reponame:Genetics and Molecular Biologyinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/S1415-47572011005000026info:eu-repo/semantics/openAccessMoosa,Mahdi MuhammadAyub,Mustak IbnBashar,AMA EmranSarwardi,GolamKhan,WaqarKhan,HaseenaYeasmin,Sabinaeng2011-08-05T00:00:00Zoai:scielo:S1415-47572011000300006Revistahttp://www.gmb.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||editor@gmb.org.br1678-46851415-4757opendoar:2011-08-05T00:00Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)false
dc.title.none.fl_str_mv Combination of two rare mutations causes β-thalassaemia in a Bangladeshi patient
title Combination of two rare mutations causes β-thalassaemia in a Bangladeshi patient
spellingShingle Combination of two rare mutations causes β-thalassaemia in a Bangladeshi patient
Moosa,Mahdi Muhammad
Hb Monroe
HBB: -92C>G
transcription factor
Egr1
title_short Combination of two rare mutations causes β-thalassaemia in a Bangladeshi patient
title_full Combination of two rare mutations causes β-thalassaemia in a Bangladeshi patient
title_fullStr Combination of two rare mutations causes β-thalassaemia in a Bangladeshi patient
title_full_unstemmed Combination of two rare mutations causes β-thalassaemia in a Bangladeshi patient
title_sort Combination of two rare mutations causes β-thalassaemia in a Bangladeshi patient
author Moosa,Mahdi Muhammad
author_facet Moosa,Mahdi Muhammad
Ayub,Mustak Ibn
Bashar,AMA Emran
Sarwardi,Golam
Khan,Waqar
Khan,Haseena
Yeasmin,Sabina
author_role author
author2 Ayub,Mustak Ibn
Bashar,AMA Emran
Sarwardi,Golam
Khan,Waqar
Khan,Haseena
Yeasmin,Sabina
author2_role author
author
author
author
author
author
dc.contributor.author.fl_str_mv Moosa,Mahdi Muhammad
Ayub,Mustak Ibn
Bashar,AMA Emran
Sarwardi,Golam
Khan,Waqar
Khan,Haseena
Yeasmin,Sabina
dc.subject.por.fl_str_mv Hb Monroe
HBB: -92C>G
transcription factor
Egr1
topic Hb Monroe
HBB: -92C>G
transcription factor
Egr1
description Screening of mutations that cause β-thalassaemia in the Bangladeshi population led to the identification of a patient with a combination of two rare mutations, Hb Monroe and HBB: -92C>G.The β-thalassaemia major male individual was transfusion-dependent and had an atypical β-globin gene cluster haplotype. Of the two mutations, Hb Monroe has been characterized in detail. Clinical effects of the other mutation, HBB: -92C>G,are unknown so far. Bioinformatics analyses were carried out to predict the possible effect of this mutation. These analyses revealed the presence of a putative binding site for Egr1, a transcription factor, within the HBB:-92 region. Our literature survey suggests a close relationship between different phenotypic manifestations of β-thalassaemia and Egr1 expression.
publishDate 2011
dc.date.none.fl_str_mv 2011-01-01
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=S1415-47572011000300006
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000300006
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S1415-47572011005000026
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.34 n.3 2011
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_ 1752122384134963200

Registros relacionados