Summary
The polymorphism of the properdin factor B (Bf, C3-proactivator, GBG = glycin-rich-β-glycoprotein) has been investigated by high voltage agarose gel immunofixation electrophoresis in 1115 unrelated persons from Southern Germany. Seven phenotypes were observed; the allele frequencies were calculated as Bfs = 0.8094, BfF = 0.1790, BfS1 = 0.0094, BfF1 = 0.0022. A study of 94 parents with 98 children and 420 mother-child combinations showed no deviation from the assumed autosomal codominant mode of inheritance. In one additional family the findings suggested the existence of a silent allele at the Bf-locus.
Zusammenfassung
Unter Verwendung der Agarosegel-Hochspannungselektrophorese mit darauffolgender Immunofixation wurde der Polymorphismus des Properdin-Faktors B (Bf, C3-Proaktivator, GBG = Glyzin-reiches β- Glykoprotein) bei 1115 nicht verwandten Personen aus Süddeutschland untersucht. Sieben Phänotypen wurden beobachtet und folgende Allel- frequenzen berechnet: BfS = 0,8094, BfF = 0,1790, BfS1 = 0,0094 und BfF1 = 0,0022. Die Untersuchung von 94 Elternpaaren mit 98 Kindern und 420 Mutter-Kind-Verbindungen erbrachte keine Abweichungen vom angenommenen autosomal kodominanten Erbgang des Bf-Merkmals. In einer weiteren Familie ergab sich ein Hinweis für die Existenz eines stummen Allels auf dem Bf-Locus.
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Weidinger, S., Schwarzfischer, F. & Cleve, H. Properdin factor B-polymorphism. Z Rechtsmed 83, 259–264 (1979). https://doi.org/10.1007/BF02333329
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DOI: https://doi.org/10.1007/BF02333329