Open AccessMay 2006 update in porphobilinogen deaminase gene polymorphisms and mutations causing acute intermittent porphyria. Comparison with the situation in Slavic population
Author(s) -
Matouš Hrdinka,
Hervé Puy,
Pavel Martásek
Publication year - 2006
Publication title -
physiological research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.647
H-Index - 70
eISSN - 1802-9973
pISSN - 0862-8408
DOI - 10.33549/physiolres.930000.55.s2.119
Subject(s) - acute intermittent porphyria , porphobilinogen deaminase , genetics , porphyria , porphobilinogen , gene , protoporphyrinogen oxidase , mutation , population , gene mutation , biology , medicine , endocrinology , environmental health
Acute intermittent porphyria (AIP) is an autosomal dominant disorder of heme biosynthesis caused by molecular defects in the porphobilinogen deaminase (PBGD) gene. This paper reviews published mutations, their types, and polymorphisms within the PBGD gene. To date, 301 different mutations and 21 polymorphisms have been identified in the PBGD gene in AIP patients and individuals from various countries and ethnic groups. During the search for mutations identified among Slavic AIP patients we found 65 such mutations and concluded that there is not a distinct predominance of certain mutations in Slavs.