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.
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Abbal, M., Thomsen, I., Cambon-Thomsen, A., Archambeau, J., Calot, M., and Fathallah, D.: Two subtypes of Bf*F by isoelectrofocusing: Differential linkage to other HLA markers. Hum Genet 69: 181–183, 1985
Abbal, M., Moennarid, C., Cambon-Thomsen, A., Tkaczuk, J., Ohayon, E., and Mauff, G.: A new BF variant (BF S11), with information for orientation for MHC-class III genes. Immunogenetics 26: 320–322, 1987
Allen, F. H.: Linkage of HL-A and GBG. Vox Sang 27: 382–384, 1974
Alper, C. A., Boenisch, T., and Watson, L.: Genetic polymorphism in human glycine-rich beta-glycoprotein. J Exp Med 135: 68–80, 1972
Alper, C. A., Awdeh, Z. L., and Yunis, E. J.: Complotypes and extended haplotypes in laboratory medicine. Complement Inflamm 6: 8–18, 1989
Bentley, D. R. and Campbell, R. D.: C2 and factor B: structure and genetics. Biochem Soc Symp 51: 7–18, 1986
Bertrams, J. and Mauff, G.: Another family with a silent allele of properdin factor B polymorphism (BF*Q0). Hum Genet 70: 321–323, 1985
Carroll, M. C., Campbell, R. D., Bentley, D. R., and Porter, R. R.: A molecular map of the human histocompatibility complex class III region linking complement genes C4, C2 and factor B. Nature 307: 237–241, 1984
Dunham, C. A., Sargant, J., Trowsdale, J., and Campbell, R. D.: Orientation and localization of the complement genes in the human MHC by pulsed-field gel electrophoresis. Complement Inflamm (Abstract) 4: 152–153, 1987
Fathallah, D., Abbal, M., Thomsen, M., Cambon-Thomsen, A., and Campbell, R. D.: A DNA restriction fragment length polymorphism in the complement region of the human MHC shows an absolute correlation with polymorphism of complement factor B (BF) defined by isoelectric focusing. J Immunogenet 12: 321–326, 1985
Geserick, G., Patzelt, D., Schröder, H., and Nagai, T.: Isoelectrofocusing in the study of the Bf system. Existence of two common subtypes of the Bf*F allele. Vox Sang 44: 178–182, 1983
Geserick, G. and Patzelt, D.: Factor B (BF) subtyping by isoelectric focusing: Methods, nomenclatures, genetics and forensic application. Electrophoresis 9: 418–421, 1988
Geserick, G., Abbal, M., Mauff, G., and Siemens, I.: Factor B (BF) nomenclature statement. Complement Inflamm 7: 255–260, 1990a
Geserick, G., Abbal, M., Brenden, M., Braun-Stilwell, M., Mauff, G., Schröder, H., and Siemens, I.: Factor B reference typing report. Complement Inflamm 7: 183–189, 1990b
Kitamura, H., Nishimukai, H., Sano, Y., and Nagaki, K.: Study on C3-like factor in the serum of a C3-deficient subject. Immunology 51: 239–245, 1984
Lachmann, P. J.: Inherited complement deficiencies. Philos Trans R Soc Lond (Biol) 306: 419–430, 1984
Lachmann, P. J.: Complement genetics and host defence. Int J Med Microbiol 274: 316–324, 1990
Mauff, G., Hummel, K., and Pulverer, G.: Properdin factor B (glycinrich beta-glycoprotein or C3 proactivator) polymorphism: Genetic and biochemical aspects. First application to paternity cases. Z Immun Forsch 150: 327–338, 1975
Mauff, G., Federmann, G., and Hauptmann, G.: A hemolytically inactive gene product of factor B. Immunobiology 158: 96–100, 1980
Orkin, S. H., Kazazian, H. H. Jr., Antonarakis, S. E., Ostrer, H., Goff, S. C., and Sexton, J. P.: Abnormal RNA processing due to the exon mutation of βE-globin gene. Nature 300: 768–769, 1982
Raum, D., Surgenor, T., Awdeh, Z., Marcus, D., Blumenthal, M., Yunis, E., and Alper, C. A.: An unusual “morphologic” variant of BF S. Am J Hum Genet 36: 346–351, 1984
Rittner, C. and Schneider, P. M.: Genetics and polymorphism of the complement components. In K. Rother and G. O. Till (eds.). The Complement System, pp. 80–135, Springer-Verlag, Berlin, 1988
Schneider, P. M., Carroll, M. C., Alper, C. A., Rittner, C., Whitehead, A. S., Yunis, E. J., and Colten, H. R.: Polymorphism of the human complement C4 and steroid 21-hydroxylase genes: restriction fragment length polymorphism revealing structural deletions, homoduplications and size variants. J Clin Invest 78: 650–657, 1986
Siemens, I., Bender, K., Geserick, G., Mauff, G., and Pulverer, G.: The BF F subtypes are detectable in the Ba fragment of factor B. Forensic Sci Int 42: 279–286, 1989
Siemens, I., Mauff, G., Geserick, G., Du Toit, E., Abbal, M., and Bertrams, J.: Detection of hypomorphic factor B (BF) gene products in 3 families with an assumed non-expressed BF allele. Complement Inflamm (Abstract) 8: 223, 1991
Siemens, I., Geserick, G., Mauff, G., Correns, A., and Schröder, H.: Improvement of BF typing and BF F subtyping after neuraminidase treatment in the unconverted and converted factor B. Electrophoresis 13: 367–372, 1992
Suciu-Foca, N., O'Neil, G., and Rubinstein, P.: Evidence of a possible Bf “null” allele. In P. I. Terasaki (ed.).: Histocompatibility Testing, pp. 935–936, UCLA Tissue Typing Laboratory, Los Angeles, 1980
Treisman, R., Orkin, S. H., and Maniatis, T.: Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes. Nature 302: 591–596, 1983
Tokunaga, K., Omoto, K., Yukiama, Y., Sakurai, M., Saji, H., and Maruy, E.: Further study on a Bf silent allele. Hum Genet 67: 449–451, 1984
Weidinger, S., Schwarzfischer, F., and Cleve, H. Z.: An indication for the existence of a Bf null allele. Rechtsmed 83: 259–264, 1979
Weidinger, S., Schwerd, W., Patutschnick, W., and Schwarzfischer, F.: Further evidence for a properdin factor B null allele. Complement Inflamm 6: 303, 1989
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Siemens, I., Brenden, M., Mauff, G. et al. Apparently non-expressed alleles of factor B (BF) code for hypomorphic proteins. Immunogenetics 37, 24–28 (1992). https://doi.org/10.1007/BF00223541
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DOI: https://doi.org/10.1007/BF00223541