GENETIC CARRIER DETECTION IN NORWEGIAN FAMILIES WITH ACUTE INTERMITTENT PORPHYRIA

Citation
E. Sagen et al., GENETIC CARRIER DETECTION IN NORWEGIAN FAMILIES WITH ACUTE INTERMITTENT PORPHYRIA, Scandinavian journal of clinical & laboratory investigation, 53(7), 1993, pp. 687-691
Citations number
24
Categorie Soggetti
Medicine, Research & Experimental
ISSN journal
00365513
Volume
53
Issue
7
Year of publication
1993
Pages
687 - 691
Database
ISI
SICI code
0036-5513(1993)53:7<687:GCDINF>2.0.ZU;2-J
Abstract
Early detection of carriers of acute intermittent porphyria (AIP) is o f great value as an assistance for correct diagnosis and prevention of attacks. In order to complement traditional biochemical methods, rest riction fragment length polymorphism (RFLP) studies as well as analysi s for a previously identified point mutation were included in a study of three Norwegian AIP families. Several asymptomatic carriers could b e identified, and the study thus demonstrates the usefulness of the co mbination of biochemical and genetic analysis.