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86 Z. Rechtsmedizin 1 (1980-1981)

handle is hein.journals/injlegame86 and id is 1 raw text is: Zeitschrift fur Z Rechtsmed 86, 1-7 (1980) Rechtsmedizin © Springer-Verlag 1980 Originalarbeiten / Original Works Pi Subtyping by Isoelectric Focusing: Further Genetic Studies and Application to Paternity Examinations S. Weidinger, F. Schwarzfischer, and H. Cleve Institute for Anthropology and Human Genetics, University of Munich, Richard-Wagner-Str. 10/I, D-8000 Munich 2, Federal Republic of Germany Summary. Genetic variation of the protease inhibitor (Pi) a,-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 PiZ1 was found. The frequency of alleles in this sample was Pi = 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. Key words: Serum groups, ai-antitrypsin - Pi-subtypes, isoelectric focusing - Paternity examinations, Pi-subtypes Zusammenfassung. Die genetischen Variationen des Protease-Inhibitors (Pi) ai- Antitrypsin wurden mit Hilfe der Isoelektrofokussierung in einer Stichprobe von 347 nicht verwandten Personen aus Stiddeutschland untersucht. Es wurden sechs haufige PiM-Untergruppen und die relativ haufigen Varianten PiS und PiZ differenziert; zudem fanden sich die seltenen Varianten PiT, Pi<L, Pi L, Pi I, Pi F sowie eine als Pi Z1 bezeichnete Variante. In dieser Stichprobe wurden folgende Allelfrequenzen berechnet: PiM' =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 Vererbungsmo- dus. Die Verwendbarkeit des Pi-Systems fur die Paternitatsbegutachtung wird diskutiert. Schlusselworter: Pi-Untergruppen, Isoelektrofokussierung - Vaterschaftsbe- gutachtung, Pi-Untergruppen - Blutgruppen, a-Antitrypsin Offprint requests to: S. Weidinger (address see above) 0044-3433/80/0086/0001/$1.40

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