Detection of four mutations in six unrelated South African patients with acute intermittent porphyria

Mol Cell Probes. 1996 Feb;10(1):57-61. doi: 10.1006/mcpr.1996.0008.

Abstract

We have screened the hydroxymethylbilane synthase cDNA from six South African patients with acute intermittent porphyria, using a combination of chemical cleavage mismatch analysis and direct sequencing of asymmetrically amplified PCR products. Four mutations were detected, a novel T insertion (771insT) and three missense mutations (R26H, R116W and R173Q). The 771insT mutation produces a stop codon, thirty-three codons downstream and a loss of approximately 20% of the protein is predicted. The R116W mutation, which was found to have a high prevalence in the Dutch population, was detected in three unrelated South African patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA Mutational Analysis
  • Humans
  • Hydroxymethylbilane Synthase / genetics*
  • Mutagenesis, Insertional*
  • Point Mutation / genetics*
  • Polymorphism, Restriction Fragment Length
  • Porphyria, Acute Intermittent / enzymology
  • Porphyria, Acute Intermittent / genetics*
  • South Africa

Substances

  • Hydroxymethylbilane Synthase