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 journalArticlepeer-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 languageEnglish
Pages (from-to)129-130
Number of pages2
JournalHaematologica
Volume92
Issue number1
DOIs
Publication statusPublished - Jan 2007

Keywords

  • β-thalassemia
  • Gene targeting
  • Gene therapy
  • HBB gene

ASJC Scopus subject areas

  • Hematology

Fingerprint Dive into the research topics of 'Sequence-specific modification of a β-thalassemia locus by small DNA fragments in human erythroid progenitor cells'. Together they form a unique fingerprint.

Cite this