Another family with a silent allele of properdin factor B polymorphism (BF QO).
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.
D000483:Alleles; D011415:Complement Factor B / Q000235:genetics* / Q000302:isolation & purification; D004792:Enzyme Precursors / Q000235:genetics*; D005260:Female; D006801:Humans; D008285:Major Histocompatibility Complex; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic
D004792:Enzyme Precursors; D011415:Complement Factor B