Summary
In five of eight members of a three generation family the existence of a silent allele of the properdin factor B polymorphism (BF*QO) was indicated by immunofixation of BF electrophoretic variants and by the hemolytic overlay after isoelectric focusing of BF allotypes. This was further supported by the results of HLA-A, B, C, DR, C2, C4A, C4B, GLO-typing. BF protein was decreased in all heterozygous BF deficient family members. The absolute hemolytic activity, however, was obviously compensated for by an increased relative functional activity of the normal S or F alleles on the other chromosome.
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Bertrams, J., Mauff, G. Another family with a silent allele of properdin factor B polymorphism (BF*QO). Hum Genet 70, 321–323 (1985). https://doi.org/10.1007/BF00295369
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DOI: https://doi.org/10.1007/BF00295369