التفاصيل البيبلوغرافية
| العنوان: |
A Novel Frameshift Mutation (+A) at Codon 18 of the β-Globin Gene Associated with High Persistence of Fetal Hemoglobin Phenotype and δβ-Thalassemia. |
| المؤلفون: |
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 |
| المصدر: |
Acta Haematologica; Jan2008, Vol. 119 Issue 1, p28-37, 10p, 1 Diagram, 5 Graphs |
| مصطلحات موضوعية: |
THALASSEMIA, NUCLEOTIDES, GLOBIN genes, DNA, POLYMERASE chain reaction |
| مستخلص: |
We report in this paper a novel thalassemia mutation (insertion of a single A nucleotide within the exon 1, at codon 18, of the β-globin gene) associated with a deletion of the δβ-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 δβ-globin gene deletion is inherited from the mother. Gene dosage analysis and deletion-specific PCR demonstrate that the deletion is the (δβ)0 Sicilian deletion, involving a 13.4-kb δβ-globin gene region. Copyright © 2008 S. Karger AG, Basel [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
Complementary Index |
