Abstract
Gene therapy has been proposed as a definitive cure for β-thalassemia. We applied a gene targeting approach, based on the introduction of small DNA fragments (SDF) into erythroid progenitor cells, to specifically modify the β-globin gene sequence at codon 39. The strategy was first tested in normal individuals by delivering mutant SDF that were able to produce the β39 (C→T) mutation. Secondly, wild-type SDF were electroporated into target cells of β39/β39. β-thalassemic patients to correct the endogenous mutation. In both cases, gene modification was assayed by allele-specific polymerase chain reaction of DNA and mRNA, by restriction fragment length polymorphism analysis and by direct sequencing.
Original language | English |
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Pages (from-to) | 129-130 |
Number of pages | 2 |
Journal | Haematologica |
Volume | 92 |
Issue number | 1 |
DOIs | |
Publication status | Published - Jan 2007 |
Keywords
- β-thalassemia
- Gene targeting
- Gene therapy
- HBB gene
ASJC Scopus subject areas
- Hematology