Abstract
Abstract Serum specimens from 93 members of six families and three additional persons in the United States with serum alpha1-antitrypsin deficiency and familial emphysema were studied to define the genetics of this protein deficiency. The total antitryptic activity of serum, used as a measure of functional integrity of alpha1-antitrypsin, correlated highly with a radial gel immunoassay of its protein concentration. Studies of these two quantitative technics suggest an autosomal recessive mode of inheritance for the deficiency of alpha1-antitrypsin. Agarose electrophoresis was used to confirm these results and to recognize genetic variants. The patient material was highly selected from the clinical practice of pulmonary diseases, and a high correlation was found between homozygous deficiency of the alpha1-antitrypsin and chronic obstructive pulmonary disease. No remarkable rate of occurrence of pulmonary disease was noted among either genetic heterozygotes or family members with normal alpha1-antitrypsin f...
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