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
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.