Haematologica, Vol 91, Issue 11, 1563-1564
Copyright © 2006 by Ferrata Storti Foundation
Quantitative assessment of the transcriptional impact of mutations in the 3'untranslated region of the human beta-globin gene: application to the +1480 C-->G mutation
LM Irenge,
A Robert,
and
JL Gala
The +1480 C -->G mutation in the 3' untranslated region (UTR) of the human beta-globin gene has been associated with beta-thalassemia. A previously vali- dated in vitroexpression model used to assess the transcriptional impact of this 3'UTR mutation demonstrated that it has no effect on beta-globin gene expression.