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  • 1
    Electronic Resource
    Electronic Resource
    Human BF*F-subtypes: segregation analysis with inclusion of MHC haplotypes (1989)
    Springer
    Human genetics 〈Berlin〉 83 (1989), S. 252-256 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The segregation of factor B(BF)F subtypes was analyzed in conjunction with other MHC markers in 15 families with 89 offspring. Informative data for BF F subtypes were obtained from 11 families, 6 of them with known recombinant individuals for the HLA-B/DR/GLO region. The subtypes did not contribute further to the localization of the cross-overs, but followed the known segregation of conventional BF allotypes. In 2 families of one kinship, the recognition of heterozygous BF*FAFB individuals could be established following the inclusion of three generations. The rarer of the two BF F subtype alleles, BF*FA, is positively associated with the HLA haplotypes BW62, CW3, C4A*3 and A29, CWX, B44, C4A*3, B*1, DR7. BF F subtypes are regarded as a very useful additional tool for studies of MHC organization and disease association.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00285166
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Apparently non-expressed alleles of factor B (BF) code for hypomorphic proteins (1992)
    Springer
    Immunogenetics 37 (1992), S. 24-28 
    Details
    ISSN: 1432-1211
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: 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 patters 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.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00223541
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    Paper (German National Licenses)
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