1. A novel frameshift mutation (+A) at codon 18 of the beta-globin gene associated with high persistence of fetal hemoglobin phenotype and deltabeta-thalassemia.
- Author
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Feriotto G, Salvatori F, Finotti A, Breveglieri G, Venturi M, Zuccato C, Bianchi N, Borgatti M, Lampronti I, Mancini I, Massei F, Favre C, and Gambari R
- Subjects
- Cells, Cultured, Child, Chromatography, High Pressure Liquid, DNA genetics, Exons, Female, Gene Deletion, Gene Dosage, Humans, Immunohistochemistry, Molecular Sequence Data, Phenotype, Reverse Transcriptase Polymerase Chain Reaction, Sequence Analysis, DNA, Codon, Fetal Hemoglobin genetics, Frameshift Mutation, Globins genetics, Thalassemia genetics
- 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 S. Karger AG, Basel)
- Published
- 2008
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