Abstract

Serum of children repeatedly hospitalized for asthma was compared with that of controls in regard to trypsin inhibitor capacity (TIC, normal 0.82mg/cc±0.21 1S.D.), α1-antitrypsin concentration (3.2mg/cc-0.9) and phenotype determined by thin layer polyacrylamide gel isoelectric focusing (PAG-IEF). The same unusual phenotype was observed in two unrelated Negro families: In one the variant appeared in mother and son (the only ones examined), in the other the variant was present in twin brothers, their father and his brother. The twin's mother, however, and 7 paternal relatives had MM. Variant serum was submitted to outside laboratories and will be sent to others who express an interest. The variant band was labeled FCincinnati because of the proband's domicile and because it moved slower than F but faster than G on standard acid starch gel. On PAG-IEF this variant band moved faster than the F,G, and I bands. In the affected individuals concentration and TIC were reduced but not abnormally so (mean: 2.2 and 0.66mg/cc, respectively), and the complete phenotype was reported as ≥. This phenotype was also found in one other black man of whom we know only that he had pancreatitis. The significance of the α1-antitrypsin FCincinnati allele is unknown although 3 of the 7 affected individuals had asthma; 4 had repeated pneumonia and six had signs of allergic disease.

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