Identification of a new HBA1 gene mutation (HBA1:c.301-2A>T) in cis with Hb riccarton (HBA1:c.154G>A) [α51(CE9)Gly→Ser]

We report two point mutations found in a heterozygous state on the HBA1 gene of an 88-year-old Argentinean patient with an α+- thalassemia (α+-thal) phenotype: Hb Riccarton HBA1:c.154G>A) [α51(CE9)Gly→Ser] and a novel mutation, HBA1:c.301-2A>T that affects the splicing acceptor site of the sec...

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Detalles Bibliográficos
Autores: Scheps, Karen, Binaghi, Amanda, Varela, Viviana
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2012
País:Argentina
Institución:Consejo Nacional de Investigaciones Científicas y Técnicas
Repositorio:CONICET Digital (CONICET)
Idioma:inglés
OAI Identifier:oai:ri.conicet.gov.ar:11336/67353
Acceso en línea:http://hdl.handle.net/11336/67353
Access Level:acceso abierto
Palabra clave:Α-Thalassemia (Α-Thal)
Genetics
Hba1 Nondeletional Mutation
https://purl.org/becyt/ford/3.3
https://purl.org/becyt/ford/3
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network_acronym_str AR
network_name_str Argentina
repository_id_str
spelling Identification of a new HBA1 gene mutation (HBA1:c.301-2A>T) in cis with Hb riccarton (HBA1:c.154G>A) [α51(CE9)Gly→Ser]Scheps, KarenBinaghi, AmandaVarela, VivianaΑ-Thalassemia (Α-Thal)GeneticsHba1 Nondeletional Mutationhttps://purl.org/becyt/ford/3.3https://purl.org/becyt/ford/3We report two point mutations found in a heterozygous state on the HBA1 gene of an 88-year-old Argentinean patient with an α+- thalassemia (α+-thal) phenotype: Hb Riccarton HBA1:c.154G>A) [α51(CE9)Gly→Ser] and a novel mutation, HBA1:c.301-2A>T that affects the splicing acceptor site of the second intron and leads to a non functional α-globin chain. Cloning of the HBA1 PCR (polymerase chain reaction) product and direct sequencing of the clones revealed that both mutations were in cis.Fil: Scheps, Karen. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; ArgentinaFil: Binaghi, Amanda. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; ArgentinaFil: Varela, Viviana. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; ArgentinaTaylor2012-08info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/67353Scheps, Karen; Binaghi, Amanda; Varela, Viviana; Identification of a new HBA1 gene mutation (HBA1:c.301-2A>T) in cis with Hb riccarton (HBA1:c.154G>A) [α51(CE9)Gly→Ser]; Taylor; Hemoglobin; 36; 5; 8-2012; 504-5070363-0269CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.3109/03630269.2012.700897info:eu-repo/semantics/altIdentifier/url/https://www.tandfonline.com/doi/full/10.3109/03630269.2012.700897info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2024-05-08T14:08:32Zoai:ri.conicet.gov.ar:11336/67353instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982024-05-08 14:08:32.411CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Identification of a new HBA1 gene mutation (HBA1:c.301-2A>T) in cis with Hb riccarton (HBA1:c.154G>A) [α51(CE9)Gly→Ser]
title Identification of a new HBA1 gene mutation (HBA1:c.301-2A>T) in cis with Hb riccarton (HBA1:c.154G>A) [α51(CE9)Gly→Ser]
spellingShingle Identification of a new HBA1 gene mutation (HBA1:c.301-2A>T) in cis with Hb riccarton (HBA1:c.154G>A) [α51(CE9)Gly→Ser]
Scheps, Karen
Α-Thalassemia (Α-Thal)
Genetics
Hba1 Nondeletional Mutation
https://purl.org/becyt/ford/3.3
https://purl.org/becyt/ford/3
title_short Identification of a new HBA1 gene mutation (HBA1:c.301-2A>T) in cis with Hb riccarton (HBA1:c.154G>A) [α51(CE9)Gly→Ser]
title_full Identification of a new HBA1 gene mutation (HBA1:c.301-2A>T) in cis with Hb riccarton (HBA1:c.154G>A) [α51(CE9)Gly→Ser]
title_fullStr Identification of a new HBA1 gene mutation (HBA1:c.301-2A>T) in cis with Hb riccarton (HBA1:c.154G>A) [α51(CE9)Gly→Ser]
title_full_unstemmed Identification of a new HBA1 gene mutation (HBA1:c.301-2A>T) in cis with Hb riccarton (HBA1:c.154G>A) [α51(CE9)Gly→Ser]
title_sort Identification of a new HBA1 gene mutation (HBA1:c.301-2A>T) in cis with Hb riccarton (HBA1:c.154G>A) [α51(CE9)Gly→Ser]
dc.creator.none.fl_str_mv Scheps, Karen
Binaghi, Amanda
Varela, Viviana
author Scheps, Karen
author_facet Scheps, Karen
Binaghi, Amanda
Varela, Viviana
author_role author
author2 Binaghi, Amanda
Varela, Viviana
author2_role author
author
dc.subject.none.fl_str_mv Α-Thalassemia (Α-Thal)
Genetics
Hba1 Nondeletional Mutation
https://purl.org/becyt/ford/3.3
https://purl.org/becyt/ford/3
topic Α-Thalassemia (Α-Thal)
Genetics
Hba1 Nondeletional Mutation
https://purl.org/becyt/ford/3.3
https://purl.org/becyt/ford/3
description We report two point mutations found in a heterozygous state on the HBA1 gene of an 88-year-old Argentinean patient with an α+- thalassemia (α+-thal) phenotype: Hb Riccarton HBA1:c.154G>A) [α51(CE9)Gly→Ser] and a novel mutation, HBA1:c.301-2A>T that affects the splicing acceptor site of the second intron and leads to a non functional α-globin chain. Cloning of the HBA1 PCR (polymerase chain reaction) product and direct sequencing of the clones revealed that both mutations were in cis.
publishDate 2012
dc.date.none.fl_str_mv 2012-08
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/67353
Scheps, Karen; Binaghi, Amanda; Varela, Viviana; Identification of a new HBA1 gene mutation (HBA1:c.301-2A>T) in cis with Hb riccarton (HBA1:c.154G>A) [α51(CE9)Gly→Ser]; Taylor; Hemoglobin; 36; 5; 8-2012; 504-507
0363-0269
CONICET Digital
CONICET
url http://hdl.handle.net/11336/67353
identifier_str_mv Scheps, Karen; Binaghi, Amanda; Varela, Viviana; Identification of a new HBA1 gene mutation (HBA1:c.301-2A>T) in cis with Hb riccarton (HBA1:c.154G>A) [α51(CE9)Gly→Ser]; Taylor; Hemoglobin; 36; 5; 8-2012; 504-507
0363-0269
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/doi/10.3109/03630269.2012.700897
info:eu-repo/semantics/altIdentifier/url/https://www.tandfonline.com/doi/full/10.3109/03630269.2012.700897
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Taylor
publisher.none.fl_str_mv Taylor
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score 15,812429

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