Two new mutations in the porphobilinogen deaminase gene and a screening method using PCR amplification of specific alleles.
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.
Lundin
G
G
Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.
Wedell
A
A
Thunell
S
S
Anvret
M
M
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
D005819:Genetic Markers; D009841:Oligonucleotides; D011163:Hydroxymethylbilane Synthase