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

Abstract

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.