Basis of the Defect in α-1-Antitrypsin Deficiency

Abstract

DEFICIENCY of the serum protein α-1-antitrypsin is an important cause of obstructive lung disease in adults and of hepatitis in children. The deficiency state can be considered as one variant form of α-1-antitrypsin but several other variants are also known, occurring with a frequency of approximately three per hundred in Northern Europeans¹. For the most part these are simple electrophoretic variants which are functionally normal and explicable as simple amino acid substitutions. The proportion of the variant form, and family studies, strongly support a single autosomal locus for α-1-antitrypsin.