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

Hum Genet. 1990 Oct;85(6):631-4. doi: 10.1007/BF00193588.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Codon / chemistry*
  • Exons
  • Humans
  • Hydroxymethylbilane Synthase / genetics*
  • Mutation
  • Nucleic Acid Hybridization
  • Pedigree
  • Polymerase Chain Reaction
  • Porphyrias / genetics*
  • Restriction Mapping
  • Skin Diseases / genetics*

Substances

  • Codon
  • Hydroxymethylbilane Synthase