Specific transcription and RNA splicing defects in five cloned beta-thalassaemia genes

Nature. 1983 Apr 14;302(5909):591-6. doi: 10.1038/302591a0.


Transcriptional analysis of five different cloned beta-thalassaemia genes introduced into cultured mammalian cells revealed specific defects in transcription and RNA splicing. A single base change 87 base pairs to the 5' side of the mRNA cap site significantly lowers the level of transcription and therefore appears to represent a promoter mutation. Three genes contain different single base changes in the first intervening sequence (IVS) 5' splice site. One mutation, at IVS1 position 1, inactivates the splice site completely; the other two, at IVS1 positions 5 and 6, reduce its activity. Each mutation activates the same three cryptic splice sites. The fifth gene contains a single base change within IVS2 at position 745, which results in the formation of abnormal beta-globin RNA that contains an extra exon.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Base Sequence
  • Cloning, Molecular*
  • DNA Restriction Enzymes
  • Genes*
  • Globins / genetics
  • Humans
  • Mutation
  • Operon
  • RNA / genetics*
  • RNA Caps / genetics
  • Thalassemia / genetics*
  • Transcription, Genetic*


  • RNA Caps
  • RNA
  • Globins
  • DNA Restriction Enzymes