Hereditary Alpha1-Antitrypsin Deficiency

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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.

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