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

Haematologica. 2006 Nov;91(11):1563-4. Epub 2006 Oct 17.

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.

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't
  • Validation Study

MeSH terms

  • Cell Line
  • Cytosine*
  • Globins / biosynthesis
  • Globins / genetics*
  • Guanine*
  • Humans
  • Mutation*
  • Transcription, Genetic*
  • Untranslated Regions / biosynthesis
  • Untranslated Regions / genetics*
  • beta-Thalassemia / genetics

Substances

  • Untranslated Regions
  • Guanine
  • Cytosine
  • Globins