title: Genetic carrier detection in Norwegian families with acute intermittent porphyria.
abstract: Early detection of carriers of acute intermittent porphyria (AIP) is of great value as an assistance for correct diagnosis and prevention of attacks. In order to complement traditional biochemical methods, restriction fragment length polymorphism (RFLP) studies as well as analysis for a previously identified point mutation were included in a study of three Norwegian AIP families. Several asymptomatic carriers could be identified, and the study thus demonstrates the usefulness of the combination of biochemical and genetic analysis.
authors.affiliation: Department of Clinical Chemistry, University Hospital, Trondheim, Norway.
authors.forename: E
authors.initials: E
authors.lastname: Sagen
authors.forename: A
authors.initials: A
authors.lastname: Laegreid
authors.forename: M
authors.initials: M
authors.lastname: Anvret
authors.forename: G
authors.initials: G
authors.lastname: Lundin
authors.forename: L
authors.initials: L
authors.lastname: Lannfelt
authors.forename: L
authors.initials: L
authors.lastname: Lilius
authors.forename: Y
authors.initials: Y
authors.lastname: Floderus
authors.forename: I
authors.initials: I
authors.lastname: Romslo
mesh_terms: D003429:Cross Reactions; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006580:Genetic Carrier Screening; D006239:Haplotypes; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000097:blood / Q000235:genetics*; D008297:Male; D009664:Norway; D010375:Pedigree; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D017118:Porphyria, Acute Intermittent / Q000235:genetics*
chemical_list: D011163:Hydroxymethylbilane Synthase