Apparently non-expressed alleles of factor B (BF) code for hypomorphic proteins.
In three families with an apparent non-expressed factor B (BF) allele (BF*Q0), advanced methods of isoelectric focusing for the determination of BF F subtypes revealed different hypomorphic BF products (BF QL) with functional hemolytic activity expressed by the assumed BF*Q0 allele. A Taq I and a Msp I restriction fragment length polymorphism as well as the Ba fragment of the expression products showed banding patterns for the BF*QL alleles corresponding to BF S types, whereas an altered Bb fragment was seen in two BF QL products. In one family an intragenic recombination site within the Bb part of the BF gene was assumed. Investigations of factor B and its conversion fragments, as demonstrated by the used methods, allow to complement molecular genetic investigations of BF*Q0 alleles in heterozygous genotypes on a protein level. We conclude that apparently non-expressed alleles of factor B code for hypomorphic but functionally active proteins.
Siemens
I
I
Institut für Pathologie der Universität, Heidelberg, Federal Republic of Germany.
Brenden
M
M
Mauff
G
G
Abbal
M
M
Du Toit
E
E
Bertrams
J
J
Geserick
G
G
D000483:Alleles; D011415:Complement Factor B / Q000032:analysis / Q000235:genetics*; D004591:Electrophoresis, Polyacrylamide Gel; D006239:Haplotypes; D006461:Hemolysis; D006801:Humans; D007525:Isoelectric Focusing; D012150:Polymorphism, Restriction Fragment Length
D011415:Complement Factor B