caa a22 4500 469033150 CHVBK 20180323132749.0 cr unu---uuuuu 170328e19921001xx s 000 0 eng 10.1007/BF00223541 doi (NATIONALLICENCE)springer-10.1007/BF00223541 Apparently non-expressed alleles of factor B ( BF ) code for hypomorphic proteins [Elektronische Daten] [Ingbert Siemens, Martina Brenden, Gottfried Mauff, Michel Abbal, Ernette Du Toit, Jörg Bertrams, Gunther Geserick] 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. Springer-Verlag, 1992 Siemens Ingbert Institut für der Universität, Im Neuenheimer Feld 220/221, W-6900, Heidelberg, Germany aut Brenden Martina Institut für Medizinische Mikrobiologie und Hygiene der Universität, Goldenfelsstr. 21, W-5000, Köln 41, Germany aut Mauff Gottfried Institut für Medizinische Mikrobiologie und Hygiene der Universität, Goldenfelsstr. 21, W-5000, Köln 41, Germany aut Abbal Michel INSERM U. 100, CHU Purpan, F-31000, Toulouse Cedex, France aut Du Toit Ernette Provincial Laboratory for Tissue Immunology, Private Bag 4, 7935, Observatory, Republic of South Africa aut Bertrams Jörg Abteilung für Labratoriumsmedizin, Elisabeth-Krankenhaus, Moltkestr. 61, W-4300, Essen, Germany aut Geserick Gunther Institut für Gerichliche Medizin der Humboldt-Universität, Hannoversche Str. 6, O-1040, Berlin, Germany aut Immunogenetics Springer-Verlag 37/1(1992-10-01), 24-28 0093-7711 37:1<24 1992 37 251 https://doi.org/10.1007/BF00223541 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00223541 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Siemens Ingbert Institut für der Universität, Im Neuenheimer Feld 220/221, W-6900, Heidelberg, Germany aut NATIONALLICENCE 700 1- Brenden Martina Institut für Medizinische Mikrobiologie und Hygiene der Universität, Goldenfelsstr. 21, W-5000, Köln 41, Germany aut NATIONALLICENCE 700 1- Mauff Gottfried Institut für Medizinische Mikrobiologie und Hygiene der Universität, Goldenfelsstr. 21, W-5000, Köln 41, Germany aut NATIONALLICENCE 700 1- Abbal Michel INSERM U. 100, CHU Purpan, F-31000, Toulouse Cedex, France aut NATIONALLICENCE 700 1- Du Toit Ernette Provincial Laboratory for Tissue Immunology, Private Bag 4, 7935, Observatory, Republic of South Africa aut NATIONALLICENCE 700 1- Bertrams Jörg Abteilung für Labratoriumsmedizin, Elisabeth-Krankenhaus, Moltkestr. 61, W-4300, Essen, Germany aut NATIONALLICENCE 700 1- Geserick Gunther Institut für Gerichliche Medizin der Humboldt-Universität, Hannoversche Str. 6, O-1040, Berlin, Germany aut NATIONALLICENCE 773 0- Immunogenetics Springer-Verlag 37/1(1992-10-01), 24-28 0093-7711 37:1<24 1992 37 251 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer