title: High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyria.
abstract: Acute intermittent porphyria (AIP) is an autosomal dominant disease characterized by a deficiency of porphobilinogen deaminase (PBGD). Up to now 14 different mutations have been described. In an effort to investigate the molecular epidemiology of AIP we have undertaken a systematic study of different exons of the PBGD gene from a large number of unrelated patients. Here, exon 8 from 82 unrelated Dutch and French AIP patients was examined using single strand confirmation polymorphism analysis (SSCP) after polymerase chain reaction (PCR) amplification. A single base mutation, C to T, at position 346 of the sequence coding for PBGD was observed in 15 Dutch families but in only 1 French family. A simple PCR assay is described to facilitate the diagnosis of this common mutation at the DNA level.
authors.affiliation: Laboratoire de Génétique Moléculaire, Faculté Xavier Bichat, Paris, France.
authors.forename: X F
authors.initials: XF
authors.lastname: Gu
authors.forename: F
authors.initials: F
authors.lastname: de Rooij
authors.forename: J S
authors.initials: JS
authors.lastname: Lee
authors.forename: K
authors.initials: K
authors.lastname: Te Velde
authors.forename: J C
authors.initials: JC
authors.lastname: Deybach
authors.forename: Y
authors.initials: Y
authors.lastname: Nordmann
authors.forename: B
authors.initials: B
authors.lastname: Grandchamp
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis / Q000379:methods*; D004277:DNA, Single-Stranded / Q000032:analysis; D005602:France; D005787:Gene Frequency; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics*; D008969:Molecular Sequence Data; D009426:Netherlands; D009690:Nucleic Acid Conformation; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D017118:Porphyria, Acute Intermittent / Q000235:genetics*; D015995:Prevalence
chemical_list: D004277:DNA, Single-Stranded; D011163:Hydroxymethylbilane Synthase