Abstract:
: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.
journal_name
Immunogeneticsjournal_title
Immunogeneticsauthors
Siemens I,Brenden M,Mauff G,Abbal M,Du Toit E,Bertrams J,Geserick Gdoi
10.1007/BF00223541subject
Has Abstractpub_date
1992-01-01 00:00:00pages
24-8issue
1eissn
0093-7711issn
1432-1211journal_volume
37pub_type
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