Molecular genetic study of acute intermittent porphyria in Russia: Mutation analysis and functional polymorphism search in porphobilinogen deaminase gene
✍ Scribed by V. L. Surin; Yu. A. Luchinina; D. S. Selivanova; Ya. S. Pustovoit; I. V. Karpova; A. V. Pivnik; A. V. Luk’ianenko; S. K. Kravchenko
- Book ID
- 110199939
- Publisher
- SP MAIK Nauka/Interperiodica
- Year
- 2010
- Tongue
- English
- Weight
- 354 KB
- Volume
- 46
- Category
- Article
- ISSN
- 1022-7954
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Acute intermittent porphyria (AIP) is an autosomal dominant inborn error of metabolism that results from the half-normal activity of the third enzyme in the heme biosynthetic pathway, hydroxymethylbilane synthase (HMB-synthase). AIP is an ecogenetic condition, with 1ife.threatening acute attacks pre
Single-strand conformation polymorphism analysis was used to screen all 15 exons of the porphobilinogen deaminase gene from 13 patients with acute intermittent porphyria. Unique banding patterns in two amplified gene fragments, one containing exon 9 and another containing exon 10, were further inves
A partial deficiency of Porphobilinogen deaminase (PBG-D) is responsible for acute intermittent porphyria (AIP). AIP is inherited in an autosomal dominant fashion, and the prevalence in the Argentinean population is about 1:125,000. Here, two new mutations and three previously reported were found in