Base substitution in an intervening sequence of a β +-thalassemic human globin gene

R. A. Spritz, P. Jagadeeswaran, Prabhakara V Choudary, P. A. Biro, J. T. Elder, J. K. deRiel, J. L. Manley, M. L. Gefter, B. G. Forget, S. M. Weissman

Research output: Contribution to journalArticlepeer-review

164 Scopus citations


β globin gene fragments from a patient with homozygous β +-thalassemia have been cloned and subjected to restriction endonuclease, nucleotide sequence, and in vitro transcription analyses. Restriction endonuclease mapping of the cloned gene fragments revealed no deletions or other rearrangements, and transcription of the thalassemic gene appeared to be normal in vitro. However, nucleotide sequence analysis of the β +-thalassemic gene fragments permitted identification of a single base change in the body of the small intervening sequence. This nucleotide change creates a sequence much like that of the 3' splice site of the small intervening sequence. The presence of a potential anomalous splicing site as a result of this base change suggests a mechanism for defective posttranscriptional processing of β globin mRNA precursor molecules in β +-thalassemia.

Original languageEnglish (US)
Pages (from-to)2455-2459
Number of pages5
JournalProceedings of the National Academy of Sciences of the United States of America
Issue number4 II
StatePublished - 1981
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • General


Dive into the research topics of 'Base substitution in an intervening sequence of a β +-thalassemic human globin gene'. Together they form a unique fingerprint.

Cite this