Functional analysis of the 4 bp deletion identified in the 5' untranslated region of one of the beta-globin genes from a Chinese beta-thalassaemic heterozygote

Br J Haematol. 1993 May;84(1):163-5. doi: 10.1111/j.1365-2141.1993.tb03041.x.

Abstract

Two plasmids have been constructed in which a beta-galactosidase/phleomycin-resistance fusion gene reporter is placed under the control of the human beta-globin gene promoter and 5' untranslated region including or not including nucleotides 40-43 previously found deleted in one Chinese beta-thalassaemic allele. Transient expression assays of these two plasmids failed to reveal any significative effect of this 4 bp deletion either on the level of the beta-galactosidase activity produced in HeLa cells transfected in standard conditions, or on the rate of synthesis of the beta-galactosidase protein in transfected HeLa cells submitted to increasing osmotic shocks. These results suggest that this 4 bp deletion is not responsible for the beta-thalassaemic phenotype in vivo.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Globins / genetics*
  • HeLa Cells
  • Heterozygote
  • Humans
  • Molecular Sequence Data
  • Sequence Deletion*
  • Transfection
  • beta-Thalassemia / genetics*

Substances

  • Globins