We report in this paper a novel thalassemia mutation (insertion of a single A nucleotide within the exon 1, at codon 18, of the beta-globin gene) associated with a deletion of the deltabeta-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 deltabeta-globin gene deletion is inherited from the mother. Gene dosage analysis and deletion-specific PCR demonstrate that the deletion is the (deltabeta)(0) Sicilian deletion, involving a 13.4-kb deltabeta-globin gene region.

A Novel Frameshift Mutation (+A) at Codon 18 of the beta-Globin Gene Associated with High Persistence of Fetal Hemoglobin Phenotype and deltabeta-Thalassemia

FERIOTTO, Giordana
Primo
;
SALVATORI, Francesca
Secondo
;
FINOTTI, Alessia;BREVEGLIERI, Giulia;VENTURI, Marina;ZUCCATO, Cristina;BIANCHI, Nicoletta;BORGATTI, Monica;LAMPRONTI, Ilaria;MANCINI, Irene;GAMBARI, Roberto
Ultimo
2008

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 beta-globin gene) associated with a deletion of the deltabeta-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 deltabeta-globin gene deletion is inherited from the mother. Gene dosage analysis and deletion-specific PCR demonstrate that the deletion is the (deltabeta)(0) Sicilian deletion, involving a 13.4-kb deltabeta-globin gene region.
Feriotto, Giordana; Salvatori, Francesca; Finotti, Alessia; Breveglieri, Giulia; Venturi, Marina; Zuccato, Cristina; Bianchi, Nicoletta; Borgatti, Monica; Lampronti, Ilaria; Mancini, Irene; Massei, F; Favre, C; Gambari, Roberto
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11392/522244
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