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

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.



Titolo: A Novel Frameshift Mutation (+A) at Codon 18 of the beta-Globin Gene Associated with High Persistence of Fetal Hemoglobin Phenotype and deltabeta-Thalassemia.
Autori: 
FERIOTTO, Giordana
SALVATORI, Francesca
FINOTTI, Alessia
BREVEGLIERI, Giulia
VENTURI, Marina
ZUCCATO, Cristina
BIANCHI, Nicoletta
BORGATTI, Monica
LAMPRONTI, Ilaria
MANCINI, Irene
GAMBARI, Roberto
mostra contributor esterni 
Data di pubblicazione: 2008
Rivista: 
ACTA HAEMATOLOGICA  
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.
Handle: http://hdl.handle.net/11392/522244
Appare nelle tipologie:03.1 Articolo su rivista

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