Genetic carrier detection in Norwegian families with acute intermittent porphyria

Abstract

Sagen E, Laegreid A, Anvret M, Lundin G, Lannfelt L, Lilius L, Floderus Y, Romslo I. Genetic carrier detection in Norwegian families with acute intermittent porphyria. Scand J Clin Lab Invest 1993; 53: 687-691.

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.

Key Words:

• acute intermittent porphyria
• genetic carrier detection
• point mutation
• porphobilinogen deaminase (PBGD) activity
• PBGD crossreacting immunological material (CRIM) analysis
• restriction fragment length polymorphism