title: Detection of four mutations in six unrelated South African patients with acute intermittent porphyria.
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.
authors.affiliation: Duncan Guthrie Institute of Medical Genetics, Yorkhill, Glasgow, UK.
authors.forename: P M
authors.initials: PM
authors.lastname: Ong
authors.forename: W G
authors.initials: WG
authors.lastname: Lanyon
authors.forename: R J
authors.initials: RJ
authors.lastname: Hift
authors.forename: J
authors.initials: J
authors.lastname: Halkett
authors.forename: M R
authors.initials: MR
authors.lastname: Moore
authors.forename: C S
authors.initials: CS
authors.lastname: Mgone
authors.forename: J M
authors.initials: JM
authors.lastname: Connor
mesh_terms: D004252:DNA Mutational Analysis; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics*; D016254:Mutagenesis, Insertional; D017354:Point Mutation / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D017118:Porphyria, Acute Intermittent / Q000201:enzymology / Q000235:genetics*; D013019:South Africa
chemical_list: D011163:Hydroxymethylbilane Synthase