Sequence-specific modification of a β-thalassemia locus by small DNA fragments in human erythroid progenitor cells

Alessia Colosimo; Valentina Guida; Ivana Antonucci; Tiziana Bonfini; Liborio Stuppia; Bruno Dallapiccola

doi:10.3324/haematol.10560

Sequence-specific modification of a β-thalassemia locus by small DNA fragments in human erythroid progenitor cells

Alessia Colosimo, Valentina Guida, Ivana Antonucci, Tiziana Bonfini, Liborio Stuppia, Bruno Dallapiccola

Research output: Contribution to journal › Article › peer-review

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
Pages (from-to)	129-130
Number of pages	2
Journal	Haematologica
Volume	92
Issue number	1
DOIs	https://doi.org/10.3324/haematol.10560
Publication status	Published - Jan 2007

Keywords

β-thalassemia
Gene targeting
Gene therapy
HBB gene

ASJC Scopus subject areas

Hematology

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10.3324/haematol.10560

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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.",

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AU - Stuppia, Liborio

AU - Dallapiccola, Bruno

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