Summary
The phenotypes of the protease inhibitor (PI) alpha-1-antitrypsin have been analyzed by isoelectric focusing on polyacrylamide gels. With improved resolution by a modified procedure it was possible to demonstrate a fifth PI*M suballele. The bands of PI M5 are located between PI M1 and PI M3. In addition, a further deficiency allele similar to PI*Z was found in a female patient with obstructive pulmonary disease. This variant was provisionally named PI Zaugsburg (PI Zaug). Family data confirm a simple codominant mode of inheritance for PI Zaug.
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Dr. W. Jahn has met with a fatal accident on June 20th, 1985 while this paper was in press. This paper is dedicated to his memory
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Weidinger, S., Jahn, W., Cujnik, F. et al. Alpha-1-antitrypsin: Evidence for a fifth PI M subtype and a new deficiency allele PI*ZAugsburg . Hum Genet 71, 27–29 (1985). https://doi.org/10.1007/BF00295662
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DOI: https://doi.org/10.1007/BF00295662