Human Genetics

, Volume 85, Issue 6, pp 631–634

Acute intermittent porphyria caused by a C→T mutation that produces a stop codon in the porphobilinogen deaminase gene

Authors

  • G. A. Scobie
    • Department of Medical BiochemistryUniversity of Wales College of Medicine
  • D. H. Llewellyn
    • Department of Medical BiochemistryUniversity of Wales College of Medicine
  • A. J. Urquhart
    • Department of Medical BiochemistryUniversity of Wales College of Medicine
  • S. J. Smyth
    • Department of Medical BiochemistryUniversity of Wales College of Medicine
  • N. A. Kalsheker
    • Department of Medical BiochemistryUniversity of Wales College of Medicine
  • P. R. Harrison
    • Beatson Institute for Cancer Research
  • G. H. Elder
    • Department of Medical BiochemistryUniversity of Wales College of Medicine
Original Investigations

DOI: 10.1007/BF00193588

Cite this article as:
Scobie, G.A., Llewellyn, D.H., Urquhart, A.J. et al. Hum Genet (1990) 85: 631. doi:10.1007/BF00193588

Summary

A mutation of the porphobilinogen (PBG) deaminase gene that produces the cross-reacting immunological material (CRIM)-negative type of acute intermittent porphyria (AIP) has been identified in one of 43 unrelated patients with this form of the disorder. The mutation is a C→T transition that abolishes a PstI recognition site in exon 9 of the gene and converts a codon for glutamine to a stop codon.

Copyright information

© Springer-Verlag 1990