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- Title
A Novel Frameshift Mutation (+A) at Codon 18 of the β-Globin Gene Associated with High Persistence of Fetal Hemoglobin Phenotype and δβ-Thalassemia.
- Authors
Feriotto, Giordana; Salvatori, Francesca; Finotti, Alessia; Breveglieri, Giulia; Venturi, Marina; Zuccato, Cristina; Bianchi, Nicoletta; Borgatti, Monica; Lampronti, Ilaria; Mancini, Irene; Massei, Francesco; Favre, Claudio; Gambari, Roberto
- Abstract
We report in this paper a novel thalassemia mutation (insertion of a single A nucleotide within the exon 1, at codon 18, of the β-globin gene) associated with a deletion of the δβ-globin gene region, in a patient exhibiting high persistence of fetal hemoglobin. The novel mutation causes a frameshift with the generation of a UGA stop codon. Analysis of the parent’s DNA demonstrates that the A insertion and frameshift mutation are inherited from the father, while the δβ-globin gene deletion is inherited from the mother. Gene dosage analysis and deletion-specific PCR demonstrate that the deletion is the (δβ)0 Sicilian deletion, involving a 13.4-kb δβ-globin gene region. Copyright © 2008 S. Karger AG, Basel
- Subjects
THALASSEMIA; NUCLEOTIDES; GLOBIN genes; DNA; POLYMERASE chain reaction
- Publication
Acta Haematologica, 2008, Vol 119, Issue 1, p28
- ISSN
0001-5792
- Publication type
Article
- DOI
10.1159/000114204