Molecular Basis for the α_1-Protease Inhibitor Deficiency

The α_1-protease inhibitor (formerly α1-antitrypsin) is in herited by a series of autosomal codominant alleles that determine its concentration and electrophoretic mobility. Serum from individuals with severe α1-protease inhibitor deficiency usually contains an electrophoretically slow-moving α_1-protease inhibitor (type ZZ) in an amount 10–40% of that found in the normal population (type MM). This deficient state is associated with either an early-onset form of familial emphysema or familial infantile cirrhosis