Coinheritance of a novel mutation on the hba1 gene: c.187delG (p.W62fsX66) [codon 62 (-G) (α1)] with the α212 patchwork allele and Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T]

Autores
Scheps, Karen Gabriela; de Paula, Silvia M.; Bitsman, Alicia; Freigeiro, Daniel H.; Basack, Nora; Pennesi, Sandra P.; Varela, Viviana
Año de publicación
2013
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
We describe a novel frameshift mutation on the HBA1 gene (c.187delG), causative of α-thalassemia (α-thal) in a Black Cuban family with multiple sequence variants in the HBA genes and the Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T] mutation. The deletion of the first base of codon 62 resulted in a frameshift at amino acid 62 with a putative premature termination codon (PTC) at amino acid 66 on the same exon (p.W62fsX66), which most likely triggers nonsense mediated decay of the resulting mRNA. This study also presents the first report of the α212 patchwork allele in Latin America and the description of two new sequence variants in the HBA2 region (c.-614G>A in the promoter region and c.95+39 C>T on the first intron).
Fil: Scheps, Karen Gabriela. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica; Argentina
Fil: de Paula, Silvia M.. Gobierno de la Ciudad de Buenos Aires. Hospital Gral.de Agudos "ramos Mejia"; Argentina
Fil: Bitsman, Alicia. Gobierno de la Ciudad de Buenos Aires. Hospital Gral.de Agudos "ramos Mejia"; Argentina
Fil: Freigeiro, Daniel H.. Gobierno de la Ciudad de Buenos Aires. Hospital Gral.de Ni?os "r.gutierrez". Servicio Hematologia; Argentina
Fil: Basack, Nora. Gobierno de la Ciudad de Buenos Aires. Hospital Gral.de Ni?os "r.gutierrez". Servicio Hematologia; Argentina
Fil: Pennesi, Sandra P.. Gobierno de la Ciudad de Buenos Aires. Hospital Gral.de Ni?os "r.gutierrez". Servicio Hematologia; Argentina
Fil: Varela, Viviana. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Inmunología, Genética y Metabolismo; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica; Argentina
Materia
Alpha-Thalassemia
Non Deletional Mutation
Α212 Patchwork Allele
Genetics
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/8502
Acceder
id CONICETDig_6c7bade00351b46094a39ee0e59b9b19
oai_identifier_str oai:ri.conicet.gov.ar:11336/8502
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Coinheritance of a novel mutation on the hba1 gene: c.187delG (p.W62fsX66) [codon 62 (-G) (α1)] with the α212 patchwork allele and Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T]Scheps, Karen Gabrielade Paula, Silvia M.Bitsman, AliciaFreigeiro, Daniel H.Basack, NoraPennesi, Sandra P.Varela, VivianaAlpha-ThalassemiaNon Deletional MutationΑ212 Patchwork AlleleGeneticshttps://purl.org/becyt/ford/3.3https://purl.org/becyt/ford/3We describe a novel frameshift mutation on the HBA1 gene (c.187delG), causative of α-thalassemia (α-thal) in a Black Cuban family with multiple sequence variants in the HBA genes and the Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T] mutation. The deletion of the first base of codon 62 resulted in a frameshift at amino acid 62 with a putative premature termination codon (PTC) at amino acid 66 on the same exon (p.W62fsX66), which most likely triggers nonsense mediated decay of the resulting mRNA. This study also presents the first report of the α212 patchwork allele in Latin America and the description of two new sequence variants in the HBA2 region (c.-614G>A in the promoter region and c.95+39 C>T on the first intron).Fil: Scheps, Karen Gabriela. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica; ArgentinaFil: de Paula, Silvia M.. Gobierno de la Ciudad de Buenos Aires. Hospital Gral.de Agudos "ramos Mejia"; ArgentinaFil: Bitsman, Alicia. Gobierno de la Ciudad de Buenos Aires. Hospital Gral.de Agudos "ramos Mejia"; ArgentinaFil: Freigeiro, Daniel H.. Gobierno de la Ciudad de Buenos Aires. Hospital Gral.de Ni?os "r.gutierrez". Servicio Hematologia; ArgentinaFil: Basack, Nora. Gobierno de la Ciudad de Buenos Aires. Hospital Gral.de Ni?os "r.gutierrez". Servicio Hematologia; ArgentinaFil: Pennesi, Sandra P.. Gobierno de la Ciudad de Buenos Aires. Hospital Gral.de Ni?os "r.gutierrez". Servicio Hematologia; ArgentinaFil: Varela, Viviana. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Inmunología, Genética y Metabolismo; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica; ArgentinaTaylor & Francis2013-06info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/8502Scheps, Karen Gabriela; de Paula, Silvia M.; Bitsman, Alicia; Freigeiro, Daniel H.; Basack, Nora; et al.; Coinheritance of a novel mutation on the hba1 gene: c.187delG (p.W62fsX66) [codon 62 (-G) (α1)] with the α212 patchwork allele and Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T]; Taylor & Francis; Hemoglobin; 37; 5; 6-2013; 492-5000363-0269enginfo:eu-repo/semantics/altIdentifier/url/http://www.tandfonline.com/doi/abs/10.3109/03630269.2013.806930?journalCode=ihem20info:eu-repo/semantics/altIdentifier/doi/10.3109/03630269.2013.806930info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-10T13:13:35Zoai:ri.conicet.gov.ar:11336/8502instacron: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:34982025-09-10 13:13:35.447CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Coinheritance of a novel mutation on the hba1 gene: c.187delG (p.W62fsX66) [codon 62 (-G) (α1)] with the α212 patchwork allele and Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T]
title Coinheritance of a novel mutation on the hba1 gene: c.187delG (p.W62fsX66) [codon 62 (-G) (α1)] with the α212 patchwork allele and Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T]
spellingShingle Coinheritance of a novel mutation on the hba1 gene: c.187delG (p.W62fsX66) [codon 62 (-G) (α1)] with the α212 patchwork allele and Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T]
Scheps, Karen Gabriela
Alpha-Thalassemia
Non Deletional Mutation
Α212 Patchwork Allele
Genetics
title_short Coinheritance of a novel mutation on the hba1 gene: c.187delG (p.W62fsX66) [codon 62 (-G) (α1)] with the α212 patchwork allele and Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T]
title_full Coinheritance of a novel mutation on the hba1 gene: c.187delG (p.W62fsX66) [codon 62 (-G) (α1)] with the α212 patchwork allele and Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T]
title_fullStr Coinheritance of a novel mutation on the hba1 gene: c.187delG (p.W62fsX66) [codon 62 (-G) (α1)] with the α212 patchwork allele and Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T]
title_full_unstemmed Coinheritance of a novel mutation on the hba1 gene: c.187delG (p.W62fsX66) [codon 62 (-G) (α1)] with the α212 patchwork allele and Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T]
title_sort Coinheritance of a novel mutation on the hba1 gene: c.187delG (p.W62fsX66) [codon 62 (-G) (α1)] with the α212 patchwork allele and Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T]
dc.creator.none.fl_str_mv Scheps, Karen Gabriela
de Paula, Silvia M.
Bitsman, Alicia
Freigeiro, Daniel H.
Basack, Nora
Pennesi, Sandra P.
Varela, Viviana
author Scheps, Karen Gabriela
author_facet Scheps, Karen Gabriela
de Paula, Silvia M.
Bitsman, Alicia
Freigeiro, Daniel H.
Basack, Nora
Pennesi, Sandra P.
Varela, Viviana
author_role author
author2 de Paula, Silvia M.
Bitsman, Alicia
Freigeiro, Daniel H.
Basack, Nora
Pennesi, Sandra P.
Varela, Viviana
author2_role author
author
author
author
author
author
dc.subject.none.fl_str_mv Alpha-Thalassemia
Non Deletional Mutation
Α212 Patchwork Allele
Genetics
topic Alpha-Thalassemia
Non Deletional Mutation
Α212 Patchwork Allele
Genetics
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.3
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv We describe a novel frameshift mutation on the HBA1 gene (c.187delG), causative of α-thalassemia (α-thal) in a Black Cuban family with multiple sequence variants in the HBA genes and the Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T] mutation. The deletion of the first base of codon 62 resulted in a frameshift at amino acid 62 with a putative premature termination codon (PTC) at amino acid 66 on the same exon (p.W62fsX66), which most likely triggers nonsense mediated decay of the resulting mRNA. This study also presents the first report of the α212 patchwork allele in Latin America and the description of two new sequence variants in the HBA2 region (c.-614G>A in the promoter region and c.95+39 C>T on the first intron).
Fil: Scheps, Karen Gabriela. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica; Argentina
Fil: de Paula, Silvia M.. Gobierno de la Ciudad de Buenos Aires. Hospital Gral.de Agudos "ramos Mejia"; Argentina
Fil: Bitsman, Alicia. Gobierno de la Ciudad de Buenos Aires. Hospital Gral.de Agudos "ramos Mejia"; Argentina
Fil: Freigeiro, Daniel H.. Gobierno de la Ciudad de Buenos Aires. Hospital Gral.de Ni?os "r.gutierrez". Servicio Hematologia; Argentina
Fil: Basack, Nora. Gobierno de la Ciudad de Buenos Aires. Hospital Gral.de Ni?os "r.gutierrez". Servicio Hematologia; Argentina
Fil: Pennesi, Sandra P.. Gobierno de la Ciudad de Buenos Aires. Hospital Gral.de Ni?os "r.gutierrez". Servicio Hematologia; Argentina
Fil: Varela, Viviana. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Inmunología, Genética y Metabolismo; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica; Argentina
description We describe a novel frameshift mutation on the HBA1 gene (c.187delG), causative of α-thalassemia (α-thal) in a Black Cuban family with multiple sequence variants in the HBA genes and the Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T] mutation. The deletion of the first base of codon 62 resulted in a frameshift at amino acid 62 with a putative premature termination codon (PTC) at amino acid 66 on the same exon (p.W62fsX66), which most likely triggers nonsense mediated decay of the resulting mRNA. This study also presents the first report of the α212 patchwork allele in Latin America and the description of two new sequence variants in the HBA2 region (c.-614G>A in the promoter region and c.95+39 C>T on the first intron).
publishDate 2013
dc.date.none.fl_str_mv 2013-06
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/11336/8502
Scheps, Karen Gabriela; de Paula, Silvia M.; Bitsman, Alicia; Freigeiro, Daniel H.; Basack, Nora; et al.; Coinheritance of a novel mutation on the hba1 gene: c.187delG (p.W62fsX66) [codon 62 (-G) (α1)] with the α212 patchwork allele and Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T]; Taylor & Francis; Hemoglobin; 37; 5; 6-2013; 492-500
0363-0269
url http://hdl.handle.net/11336/8502
identifier_str_mv Scheps, Karen Gabriela; de Paula, Silvia M.; Bitsman, Alicia; Freigeiro, Daniel H.; Basack, Nora; et al.; Coinheritance of a novel mutation on the hba1 gene: c.187delG (p.W62fsX66) [codon 62 (-G) (α1)] with the α212 patchwork allele and Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T]; Taylor & Francis; Hemoglobin; 37; 5; 6-2013; 492-500
0363-0269
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/http://www.tandfonline.com/doi/abs/10.3109/03630269.2013.806930?journalCode=ihem20
info:eu-repo/semantics/altIdentifier/doi/10.3109/03630269.2013.806930
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 & Francis
publisher.none.fl_str_mv Taylor & Francis
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
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
_version_ 1842980719276589056
score 12.993085

Publicaciones similares