@article{Alessia Colosimo_Valentina Guida_Ivana Antonucci_Tiziana Bonfini_Liborio Stuppia_Bruno Dallapiccola_2007, place={Pavia, Italy}, title={Sequence-specific modification of a β-thalassemia locus by small DNA fragments in human erythroid progenitor cells}, volume={92}, url={https://haematologica.org/article/view/4290}, DOI={10.3324/haematol.10560}, abstractNote={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.}, number={1}, journal={Haematologica}, author={Alessia Colosimo and Valentina Guida and Ivana Antonucci and Tiziana Bonfini and Liborio Stuppia and Bruno Dallapiccola}, year={2007}, month={Jan.}, pages={129-130} }