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 second in...

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Authors: Scheps, Karen; Binaghi, Amanda; Varela, Viviana
Format: Article
Status:Published version
Publication date:2012
Country:Argentina
Institution:Consejo Nacional de Investigaciones Científicas y Técnicas
Repository:CONICET Digital (CONICET)
Language:English
OAI Identifier:oai:ri.conicet.gov.ar:11336/67353
Online Access:http://hdl.handle.net/11336/67353
Access Level:Open access
Keyword: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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author Scheps, Karen
author2 Binaghi, Amanda
Varela, Viviana
author2_role author
author
author_browse Binaghi, Amanda
Scheps, Karen
Varela, Viviana
author_facet Scheps, Karen
Binaghi, Amanda
Varela, Viviana
author_role author
collection CONICET Digital (CONICET)
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.
eu_rights_str_mv openAccess
format article
id AR_2c1c7edf9bea93ebf211e1c8e8a0603e
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
institution Consejo Nacional de Investigaciones Científicas y Técnicas
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
language eng
network_acronym_str AR
network_name_str Argentina
oai_identifier_str oai:ri.conicet.gov.ar:11336/67353
publishDate 2012
publishDateSort 2012
publisher Taylor
publisherStr Taylor
reponame_str CONICET Digital (CONICET)
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, Karen Binaghi, Amanda Varela, Viviana Α-Thalassemia (Α-Thal) Genetics Hba1 Nondeletional Mutation https://purl.org/becyt/ford/3.3 https://purl.org/becyt/ford/3 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. Fil: Scheps, Karen. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; Argentina Fil: Binaghi, Amanda. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina Fil: Varela, Viviana. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; Argentina Taylor 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
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
status_str publishedVersion
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]
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_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_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]
topic Α-Thalassemia (Α-Thal)
Genetics
Hba1 Nondeletional Mutation
https://purl.org/becyt/ford/3.3
https://purl.org/becyt/ford/3
topic_facet Α-Thalassemia (Α-Thal)
Genetics
Hba1 Nondeletional Mutation
https://purl.org/becyt/ford/3.3
https://purl.org/becyt/ford/3
url http://hdl.handle.net/11336/67353

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