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.
2008
Feriotto, Giordana; Salvatori, Francesca; Finotti, Alessia; Breveglieri, Giulia; Venturi, Marina; Zuccato, Cristina; Bianchi, Nicoletta; Borgatti, Mon...espandi
File in questo prodotto:
File Dimensione Formato  
Feriotto G et al Acta Haematologica 2008.pdf

solo gestori archivio

Descrizione: Articolo principale
Tipologia: Full text (versione editoriale)
Licenza: NON PUBBLICO - Accesso privato/ristretto
Dimensione 6.03 MB
Formato Adobe PDF
6.03 MB Adobe PDF   Visualizza/Apri   Richiedi una copia

I documenti in SFERA sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11392/522244
Citazioni
  • ???jsp.display-item.citation.pmc??? 4
  • Scopus 10
  • ???jsp.display-item.citation.isi??? 10
social impact