title: A novel frameshift mutation (+A) at codon 18 of the beta-globin gene associated with high persistence of fetal hemoglobin phenotype and deltabeta-thalassemia.
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.
authors.affiliation: GenTech-for-Thal, Department of Biochemistry and Molecular Biology, Ferrara University, Ferrara, Italy.
authors.forename: Giordana
authors.initials: G
authors.lastname: Feriotto
authors.forename: Francesca
authors.initials: F
authors.lastname: Salvatori
authors.forename: Alessia
authors.initials: A
authors.lastname: Finotti
authors.forename: Giulia
authors.initials: G
authors.lastname: Breveglieri
authors.forename: Marina
authors.initials: M
authors.lastname: Venturi
authors.forename: Cristina
authors.initials: C
authors.lastname: Zuccato
authors.forename: Nicoletta
authors.initials: N
authors.lastname: Bianchi
authors.forename: Monica
authors.initials: M
authors.lastname: Borgatti
authors.forename: Ilaria
authors.initials: I
authors.lastname: Lampronti
authors.forename: Irene
authors.initials: I
authors.lastname: Mancini
authors.forename: Francesco
authors.initials: F
authors.lastname: Massei
authors.forename: Claudio
authors.initials: C
authors.lastname: Favre
authors.forename: Roberto
authors.initials: R
authors.lastname: Gambari
mesh_terms: D002478:Cells, Cultured; D002648:Child; D002851:Chromatography, High Pressure Liquid; D003062:Codon; D004247:DNA / Q000235:genetics; D005091:Exons; D005260:Female; D005319:Fetal Hemoglobin / Q000235:genetics*; D016368:Frameshift Mutation; D017353:Gene Deletion; D018628:Gene Dosage; D005914:Globins / Q000235:genetics*; D006801:Humans; D007150:Immunohistochemistry; D008969:Molecular Sequence Data; D010641:Phenotype; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D013789:Thalassemia / Q000235:genetics*
chemical_list: D003062:Codon; D005914:Globins; D004247:DNA; D005319:Fetal Hemoglobin