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 | |
| Publication status | Published - Jan 2007 |
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Keywords
- β-thalassemia
- Gene targeting
- Gene therapy
- HBB gene
ASJC Scopus subject areas
- Hematology
Cite this
Sequence-specific modification of a β-thalassemia locus by small DNA fragments in human erythroid progenitor cells. / Colosimo, Alessia; Guida, Valentina; Antonucci, Ivana; Bonfini, Tiziana; Stuppia, Liborio; Dallapiccola, Bruno.
In: Haematologica, Vol. 92, No. 1, 01.2007, p. 129-130.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Sequence-specific modification of a β-thalassemia locus by small DNA fragments in human erythroid progenitor cells
AU - Colosimo, Alessia
AU - Guida, Valentina
AU - Antonucci, Ivana
AU - Bonfini, Tiziana
AU - Stuppia, Liborio
AU - Dallapiccola, Bruno
PY - 2007/1
Y1 - 2007/1
N2 - 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.
AB - 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.
KW - β-thalassemia
KW - Gene targeting
KW - Gene therapy
KW - HBB gene
UR - http://www.scopus.com/inward/record.url?scp=33846923834&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=33846923834&partnerID=8YFLogxK
U2 - 10.3324/haematol.10560
DO - 10.3324/haematol.10560
M3 - Article
C2 - 17229648
AN - SCOPUS:33846923834
VL - 92
SP - 129
EP - 130
JO - Haematologica
JF - Haematologica
SN - 0390-6078
IS - 1
ER -