Summary
Two alleles, PiZ and PiS, are associated with lower than normal alpha1-antitrypsin concentrations and lower trypsin inhibiting activities in human serum. The phenotypes that result due to heterozygosity or homozygosity for these alleles can be distinguished with electrophoretic procedures. The alpha1-antitrypsin concentrations of several phenotypes overlap so that the phenotypes can be determined with certainty only by an electrophoretic procedure.
Zusammenfassung
Die zwei Allele PiZ and PiS führen zu subnormalen Konzentrationen von Alpha1-Antitrypsin und niedrigen Trypsinhemmaktivitäten im menschlichen Serum. Die durch Hetero- und Homozygotie für diese Allele entstehenden Phänotypen können durch elektrophoretische Methoden unterschieden werden. Die Alpha1-Antitrypsin-Konzentrationen der verschiedenen Phänotypen überlappen, so daß eine sichere Erkennung nur durch elektrophoretische Methoden möglich ist.
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This work was supported in part by Deutsche Forschungsgemeinschaft and Joachim Jungius-Gesellschaft der Wissenschaften Hamburg.
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Kueppers, F. Alpha1-antitrypsin levels and electrophoretic patterns of several deficient phenotypes. Hum Genet 15, 1–6 (1972). https://doi.org/10.1007/BF00273424
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DOI: https://doi.org/10.1007/BF00273424