GENETIC CARRIER DETECTION IN NORWEGIAN FAMILIES WITH ACUTE INTERMITTENT PORPHYRIA

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.