title: Two new mutations in the porphobilinogen deaminase gene and a screening method using PCR amplification of specific alleles.
abstract: Acute intermittent porphyria (AIP) is attributable to defects in the porphobilinogen deaminase (PBGD) gene. Two new mutations have been found in the PBGD gene in Swedish families. The first is a G to A splice mutation in the last position of intron 9. A screening method using allele-specific amplification has been designed for the rapid detection of this mutation. The second mutation is a C to T substitution in exon 10, changing Arg201 to Trp. This mutation can be detected by restriction enzyme cleavage.
authors.affiliation: Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.
authors.forename: G
authors.initials: G
authors.lastname: Lundin
authors.forename: A
authors.initials: A
authors.lastname: Wedell
authors.forename: S
authors.initials: S
authors.lastname: Thunell
authors.forename: M
authors.initials: M
authors.lastname: Anvret
mesh_terms: D000483:Alleles; D001483:Base Sequence; D005260:Female; D005819:Genetic Markers; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics*; D007438:Introns / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009693:Nucleic Acid Hybridization; D009841:Oligonucleotides; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods*; D017118:Porphyria, Acute Intermittent / Q000201:enzymology / Q000235:genetics
chemical_list: D005819:Genetic Markers; D009841:Oligonucleotides; D011163:Hydroxymethylbilane Synthase