Summary
Genetic variation of the protease inhibitor (Pi) a 1-antitrypsin was analyzed by isoelectric focusing on polyacrylamide gels in a sample of 347 unrelated individuals from Southern Germany. Six common subtypes of PiM were observed as well as the relatively frequent variants PiS and PiZ and the rare variants PiT, Pi<L, PiL, PiI and PiF. Also, a variant called PiZl was found. The frequency of alleles in this sample was PiM1=0.6917, PiM2=0.1686, PiM3=0.0865, PiS=0.0230, PiZ=0.0187, and Pi*=0.0115. In 82 families the distribution of Pi types was in agreement with an autosomal codominant mode of inheritance. The application of Pi classification in cases of disputed paternity is discussed.
Zusammenfassung
Die genetischen Variationen des Protease-Inhibitors (Pi) a 1-Antitrypsin wurden mit Hilfe der Isoelektrofokussierung in einer Stichprobe von 347 nicht verwandten Personen aus Süddeutschland untersucht. Es wurden sechs häufige PiM-Untergruppen und die relativ häufigen Varianten PiS und PiZ differenziert; zudem fanden sich die seltenen Varianten PiT, Pi<L, PiL, PiI, PiF sowie eine als PiZl bezeichnete Variante. In dieser Stichprobe wurden folgende Allelfrequenzen berechnet: PiM1=0.6917, PiM2=0,1686, PiM3=0,0865, PiS=0,0230, PiZ=0,0187 und Pi*=0,0115. In 82 Familien fand sich keine Abweichung vom angenommenen autosomal kodominanten Vererbungsmodus. Die Verwendbarkeit des Pi-Systems für die Paternitätsbegutachtung wird diskutiert.
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Weidinger, S., Schwarzfischer, F. & Cleve, H. Pi subtyping by isoelectric focusing: Further genetic studies and application to paternity examinations. Z Rechtsmed 86, 1–7 (1980). https://doi.org/10.1007/BF00200971
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DOI: https://doi.org/10.1007/BF00200971