Further study on a BF silent allele.
A family was found which indicated the existence of a silent allele (BF*QO) at the locus for complement factor B. Three generations with eight members were studied. Four individuals were considered to be heterozygous for B deficiency because of unusual segregation patterns of the BF electrophoretic variants and low levels of B. Haplotype study on the other HLA-linked markers supported the presumption. No unusual products were detected by immunoblotting after sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE).
D000483:Alleles; D002874:Chromosome Mapping; D011415:Complement Factor B / Q000235:genetics*; D004591:Electrophoresis, Polyacrylamide Gel; D004792:Enzyme Precursors / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree
D004792:Enzyme Precursors; D011415:Complement Factor B