A novel beta-thalassaemia mutation in the 5' untranslated region of the beta-globin gene

Br J Haematol. 1994 Oct;88(2):307-10. doi: 10.1111/j.1365-2141.1994.tb05023.x.

Abstract

A thymidine deletion at position +10 of the 5' untranslated region of the beta-globin gene was detected in a beta-thalassaemia intermedia patient carrying a beta(0)39 stop codon mutation on the other chromosome; this new mutation, +10(-T), was detected by automated fluorescent DNA sequencing and verified by dot-blot allele-specific hybridizations. The +10(-T) mutation is a 'silent carrier', is associated with a reduced amount of steady-state beta-globin mRNA, and establishes a connection between the 5' untranslated region of the beta-globin gene and the regulation of its expression.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Base Sequence / genetics*
  • Blotting, Northern
  • DNA Mutational Analysis
  • Female
  • Globins / genetics*
  • Humans
  • Molecular Sequence Data
  • RNA, Messenger / genetics
  • Sequence Deletion
  • Thymidine / genetics
  • beta-Thalassemia / blood
  • beta-Thalassemia / genetics*

Substances

  • RNA, Messenger
  • Globins
  • Thymidine