Acute intermittent porphyria (AIP) is an autosomal dominant disease caused by mutations of the gene coding for hidroxymethylbilane synthase. Acute attack of AJP is a potentially life-threatening condition precipitated by certain drugs, alcohol, fasting and stress. Biochemical diagnosis before the manifestation of the symptoms is problematic, and genetic screening is required to identify asymptotic carriers. The aim of this study was to establish a fast, reproducible and reliable genetic method to detect mutations causing AIP. Exon 10 of one healthy individual and 12 AIP patients was studied using a recently developed method, temporal temperature gradient electrophoresis (TTGE). Mutation of exon 10 was detected using TTGE in one patient. DNA sequence analysis confirmed the presence of a heterozygous point mutation causing substitution of the arginine in position 173 of the gene with glutamine. These results were also confirmed using restriction enzyme analysis, and this method and TTGE identified a child of this patient as an asymptotic carrier of AIP.
|Number of pages||7|
|Journal||Acta physiologica Hungarica|
|Publication status||Published - dec. 1 1999|
ASJC Scopus subject areas
- Physiology (medical)