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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Feriotto, Giordana Salvatori, Francesca Finotti, Alessia Breveglieri, Giulia Venturi, Marina Zuccato, Cristina Bianchi, Nicoletta Borgatti, Monica Lampronti, Ilaria Mancini, Irene Massei, Francesco Favre, Claudio Gambari, Roberto |
| Description | Country affiliation: Italy Author Affiliation: Feriotto G ( GenTech-for-Thal, Department of Biochemistry and Molecular Biology, Ferrara University, Ferrara, Italy.) |
| 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. |
| File Format | HTM / HTML |
| ISSN | 00015792 |
| Issue Number | 1 |
| Volume Number | 119 |
| e-ISSN | 14219662 |
| Journal | Acta Haematologica |
| Language | English |
| Publisher | Karger |
| Publisher Date | 2008-01-01 |
| Publisher Place | Switzerland |
| Access Restriction | Subscribed |
| Subject Keyword | Discipline Hematology Codon Fetal Hemoglobin Genetics Frameshift Mutation Globins Thalassemia Cells, Cultured Child Chromatography, High Pressure Liquid Dna Exons Female Gene Deletion Gene Dosage Humans Immunohistochemistry Molecular Sequence Data Phenotype Reverse Transcriptase Polymerase Chain Reaction Sequence Analysis, Dna Journal Article Research Support, Non-u.s. Gov't |
| Content Type | Text |
| Resource Type | Article |
| Subject | Hematology |
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