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A Novel Frameshift Mutation (+A) at Codon 18 of the β-Globin Gene Associated with High Persistence of Fetal Hemoglobin Phenotype and δβ-Thalassemia.
- Source :
- Acta Haematologica; Jan2008, Vol. 119 Issue 1, p28-37, 10p, 1 Diagram, 5 Graphs
- Publication Year :
- 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 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)<superscript>0</superscript> Sicilian deletion, involving a 13.4-kb δβ-globin gene region. Copyright © 2008 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]
- Subjects :
- THALASSEMIA
NUCLEOTIDES
GLOBIN genes
DNA
POLYMERASE chain reaction
Subjects
Details
- Language :
- English
- ISSN :
- 00015792
- Volume :
- 119
- Issue :
- 1
- Database :
- Complementary Index
- Journal :
- Acta Haematologica
- Publication Type :
- Academic Journal
- Accession number :
- 31219759
- Full Text :
- https://doi.org/10.1159/000114204