Three Mexican Families with β thalassemia intermedia with different molecular basis
Autor(a) principal: | |
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Data de Publicação: | 2019 |
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=S1415-47572019000500104 |
Resumo: | Abstract Beta thalassemia (β-thal) is a frequent monogenic disease, is clinically and molecularly heterogeneous. This study described molecular and laboratory findings for three Mexican patients with β-thal intermedia phenotype and their relatives. Three Mexican families were studied for presenting β-thal intermedia, ARMS-PCR and Gap-PCR were performed to screen for common mutations, Sanger sequencing for rare or new alleles, and MLPA for identifying deletions and or duplications. In all three families we observed, in heterozygote condition, the mutation c.118C > T (p.Gln39*) also known as codon 39(C > T) in the β globin gene (HBB) associated with a novel molecular defect: a new duplication of the alpha globin gene cluster, a new deletion that includes the loss of exon 3 of HBB and finally a novel mutation in the 3’UTR of HBB (HBB: c.*132C > A). We report three Mexican families with beta thalassemia intermedia due to different molecular basis; a new single nucleotide mutation involving the last nucleotide of the β-globin chain transcript; and two possible new DNA rearrangements, an α cluster duplication, and a partial β gene deletion. |
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Genetics and Molecular Biology |
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Three Mexican Families with β thalassemia intermedia with different molecular basisThalassemia intermediaMexican populationβ globin genenew mutationsalpha-globin gene duplicationAbstract Beta thalassemia (β-thal) is a frequent monogenic disease, is clinically and molecularly heterogeneous. This study described molecular and laboratory findings for three Mexican patients with β-thal intermedia phenotype and their relatives. Three Mexican families were studied for presenting β-thal intermedia, ARMS-PCR and Gap-PCR were performed to screen for common mutations, Sanger sequencing for rare or new alleles, and MLPA for identifying deletions and or duplications. In all three families we observed, in heterozygote condition, the mutation c.118C > T (p.Gln39*) also known as codon 39(C > T) in the β globin gene (HBB) associated with a novel molecular defect: a new duplication of the alpha globin gene cluster, a new deletion that includes the loss of exon 3 of HBB and finally a novel mutation in the 3’UTR of HBB (HBB: c.*132C > A). We report three Mexican families with beta thalassemia intermedia due to different molecular basis; a new single nucleotide mutation involving the last nucleotide of the β-globin chain transcript; and two possible new DNA rearrangements, an α cluster duplication, and a partial β gene deletion.Sociedade Brasileira de Genética2019-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000500104Genetics and Molecular Biology v.42 n.4 2019reponame:Genetics and Molecular Biologyinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/1678-4685-gmb-2019-0032info:eu-repo/semantics/openAccessTorre,Lourdes del Carmen Rizo de laDíaz,Francisco Javier PereaCortés,Bertha IbarraLópez,Víctor Manuel RenteríaLópez,Josefina Yoaly SánchezAnzaldo,Francisco Javier SánchezTorres,María Teresa MagañaGonnet,KatiaBadens,CatherineBonello-Palot,Nathalieeng2020-02-14T00:00:00Zoai:scielo:S1415-47572019000500104Revistahttp://www.gmb.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||editor@gmb.org.br1678-46851415-4757opendoar:2020-02-14T00:00Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)false |
dc.title.none.fl_str_mv |
Three Mexican Families with β thalassemia intermedia with different molecular basis |
title |
Three Mexican Families with β thalassemia intermedia with different molecular basis |
spellingShingle |
Three Mexican Families with β thalassemia intermedia with different molecular basis Torre,Lourdes del Carmen Rizo de la Thalassemia intermedia Mexican population β globin gene new mutations alpha-globin gene duplication |
title_short |
Three Mexican Families with β thalassemia intermedia with different molecular basis |
title_full |
Three Mexican Families with β thalassemia intermedia with different molecular basis |
title_fullStr |
Three Mexican Families with β thalassemia intermedia with different molecular basis |
title_full_unstemmed |
Three Mexican Families with β thalassemia intermedia with different molecular basis |
title_sort |
Three Mexican Families with β thalassemia intermedia with different molecular basis |
author |
Torre,Lourdes del Carmen Rizo de la |
author_facet |
Torre,Lourdes del Carmen Rizo de la Díaz,Francisco Javier Perea Cortés,Bertha Ibarra López,Víctor Manuel Rentería López,Josefina Yoaly Sánchez Anzaldo,Francisco Javier Sánchez Torres,María Teresa Magaña Gonnet,Katia Badens,Catherine Bonello-Palot,Nathalie |
author_role |
author |
author2 |
Díaz,Francisco Javier Perea Cortés,Bertha Ibarra López,Víctor Manuel Rentería López,Josefina Yoaly Sánchez Anzaldo,Francisco Javier Sánchez Torres,María Teresa Magaña Gonnet,Katia Badens,Catherine Bonello-Palot,Nathalie |
author2_role |
author author author author author author author author author |
dc.contributor.author.fl_str_mv |
Torre,Lourdes del Carmen Rizo de la Díaz,Francisco Javier Perea Cortés,Bertha Ibarra López,Víctor Manuel Rentería López,Josefina Yoaly Sánchez Anzaldo,Francisco Javier Sánchez Torres,María Teresa Magaña Gonnet,Katia Badens,Catherine Bonello-Palot,Nathalie |
dc.subject.por.fl_str_mv |
Thalassemia intermedia Mexican population β globin gene new mutations alpha-globin gene duplication |
topic |
Thalassemia intermedia Mexican population β globin gene new mutations alpha-globin gene duplication |
description |
Abstract Beta thalassemia (β-thal) is a frequent monogenic disease, is clinically and molecularly heterogeneous. This study described molecular and laboratory findings for three Mexican patients with β-thal intermedia phenotype and their relatives. Three Mexican families were studied for presenting β-thal intermedia, ARMS-PCR and Gap-PCR were performed to screen for common mutations, Sanger sequencing for rare or new alleles, and MLPA for identifying deletions and or duplications. In all three families we observed, in heterozygote condition, the mutation c.118C > T (p.Gln39*) also known as codon 39(C > T) in the β globin gene (HBB) associated with a novel molecular defect: a new duplication of the alpha globin gene cluster, a new deletion that includes the loss of exon 3 of HBB and finally a novel mutation in the 3’UTR of HBB (HBB: c.*132C > A). We report three Mexican families with beta thalassemia intermedia due to different molecular basis; a new single nucleotide mutation involving the last nucleotide of the β-globin chain transcript; and two possible new DNA rearrangements, an α cluster duplication, and a partial β gene deletion. |
publishDate |
2019 |
dc.date.none.fl_str_mv |
2019-01-01 |
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=S1415-47572019000500104 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000500104 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/1678-4685-gmb-2019-0032 |
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.42 n.4 2019 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_ |
1752122389265645568 |