α1-Antitrypsin Deficiency: A Variant with No Detectable α1-Antitrypsin

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Science  06 Jul 1973:
Vol. 181, Issue 4094, pp. 70-71
DOI: 10.1126/science.181.4094.70


No α1-antitrypsin could be detected in the serum of a 24-year-old man with advanced pulmonary emphysema by agarose electrophoresis, immnuno-electrophoresis, double diffusion in agarose gel, or α1-antitrypsin genetic typing by a combination of starch-gel electrophoresis and crossed antigen-antibody electrophoresis. A circulating α1-antitrypsin inactivator could not be demonstrated. Evidence was obtained in family members of genetic transmission of this new α1-antitrypsin variant.