, Volume 30, Issue 4, pp 291–295 | Cite as

DNA polymorphism of the human complementC8β gene: formal genetics and intragenic localization

  • Daniela Herrmann
  • James M. Sodetz
  • Christian Rittner
  • Peter M. Schneider


The eighth component of human complement consists of three subunits of different molecular mass, which are coded for by three separate genetic loci. Polymorphisms have been described at the protein level for the alpha and beta subunits by means of sodium dodecyl sulfate gel electrophoresis and isoelectric focusing. Using a full-length humanC8β cDNA probe, we have studied more than 100 individuals by Southern blot analysis to detect DNA polymorphisms. We have found two restriction fragment length polymorphisms (RFLPs) with the enzymesTaqI andBam HI. TheTaq I polymorphism is defined by two alleles, i.e., a single 4.9 kb fragment or two 2.8/2.1 kb fragments. The allele frequencies are 0.68 and 0.32, respectively. The second RFLP withBam HI is correlated with theTaq I variants: 3 kbBam HI; 4.9 kbTaq I and 3.3 kbBam HI; 2.8/2.1 kbTaqI. Both RFLPs could be mapped to the 3′ portion of theC8β gene. Based on the size of genomic restriction fragments, theC8β gene can be estimated to have a size of 32–36 kb. Because of the even frequency distribution, theC8β DNA polymorphisms may be useful in gene mapping and disease association studies.


Sodium Dodecyl Sulfate Restriction Fragment Length Polymorphism Restriction Fragment Southern Blot Analysis cDNA Probe 
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  1. Alper, C. A. Marcus, D., Raum, D., and Petersen, B. H.: Genetic polymorphism in C8 beta-chain. Evidence for two unlinked genetic loci for the eighth component of human complement (C8).J Clin Invest 72: 1526–1531, 1983PubMedGoogle Scholar
  2. Howard, O. M. Z., Rao, A. G., and Sodetz, J. M.: Complementary DNA and derived amino acid sequence of the beta-subunit of human complement protein C8: identification of a close structural and ancestral relationship to the alpha-subunit and C9.Biochemistry 26: 3565–3570, 1987CrossRefPubMedGoogle Scholar
  3. Kaufman, K. M., Snider, J. V., Spurr, N. K., Schwartz, C. E., and Sodetz, J. M.: Chromosomal assigment of genes encoding the α, β and γ subunits of human complement protein C8. Identification of a close physical linkage between the α and β loci.Genomics, in press, 1989Google Scholar
  4. Kolb, W. P. and Müller-Eberhard, H. J.: The membrane attack mechanism of complement: the three polypeptide chain structure of the eighth component (C8).J Exp Med 143: 1131–1139, 1976CrossRefGoogle Scholar
  5. Maniatis, T., Fritsch, E. and Sambrook, J.:Molecular Cloning.A Laboratory Manual, Cold Spring Harbor, New York, 1982Google Scholar
  6. Miller, S. A., Dykes, D. D., and Polesky, H.F.: A simple salting out procedure for extracting DNA from human nucleated cells.Nucleic Acid Res 16: 1215, 1988PubMedGoogle Scholar
  7. Monahan, J. B. and Sodetz, J. M.: Binding of the eighth component of human complement to the soluble cytolytic complex is mediated by its beta subunit.J Biol Chem 255: 10579–10582, 1980PubMedGoogle Scholar
  8. Ng, S. C., Rao, G., Howard, O. M. Z., and Sodetz, J. M.: The eighth component of human complement: evidence that it is an oligomeric serum protein assembled from products of three different genes.Biochemistry 26: 5229–5233, 1987CrossRefPubMedGoogle Scholar
  9. Rao, A. G., Howard, O. M. Z., Ng, S. C., Whitehead, A. S., Colten, H. R., and Sodetz, J. M.: Complementary DNA and derived amino acid sequence of the alpha-subunit of human complement protein C8: evidence for the existence of a separate alpha-subunit mRNA.Biochemistry 26: 3556–3564, 1987CrossRefPubMedGoogle Scholar
  10. Raum, D., Spencer, M. A., Balavitch, D., Tidoman, S., Merritt, A. D., Taggart, R. T., Petersen, B. H., Day, N. K., and Alper, C. A.: Genetic control of the eighth component of complement.J Clin Invest 64: 858–865, 1979PubMedGoogle Scholar
  11. Rigby, P. W. J., Dieckmann, M., Rhodes, C., and Berg, P.: Labelling deoxynucleic acid to high specific activity in vitro by nick translation with DNA polymerase I.J. Mol Biol 113: 237–251, 1977CrossRefPubMedGoogle Scholar
  12. Rittner, C. Hargesheimer, W., and Mollenhauer, E.: Population and formal genetics of the human C81 (alpha-gamma) polymorphism.Hum Genet 67: 166–169, 1984CrossRefPubMedGoogle Scholar
  13. Rittner, C., Hargesheimer, W., Stradmann, B., Bertrams, J., Baur, M.P., and Petersen, B. H.: Human C81 (alpha-gamma) polymorphism: detection in the alpha-gamma subunit on SDS-PAGE, formal genetics and linkage relationship.Am J Hum Genet 38: 482–486, 1986PubMedGoogle Scholar
  14. Rogde, S., Mevag, B., Teisberg, P., Gedde-Dahl, T., Jr., Tedesco, F., and Olaisen, B.: Genetic polymorphism of complement component C8.Hum Genet 70: 211–216, 1985CrossRefPubMedGoogle Scholar
  15. Rogde, S., Olaisen, B., Gedde-Dahl, T., Jr., and Teisberg, P.: The C8A and C8B loci are closely linked on chromosome 1.Am J Hum Genet 50: 139–144, 1986Google Scholar
  16. Schneider, P. M., Dittmer, B., Tedesco, F., Späth, P. J., Rittner, C., and Sodetz, J. M.: Genomic structure of the complement C8β locus in individuals with inherited C8β deficiency.Complement 4: 221–222, 1987Google Scholar
  17. Southern, E. M.: Detection of specific sequences among DNA fragments separated by electrophoresis.J Mol Biol 98: 503–517, 1975PubMedGoogle Scholar
  18. Steckel, E. W., York, R. G., Monahan, J. B., and Sodetz, J. M.: The eighth component of human complement: purification and physicochemical characterization of its unusual subunit structure.J. Biol Chem. 255: 11997–12005, 1980PubMedGoogle Scholar
  19. Tedesco, F., Bardare, M., Giovanetti, A. M., and Sirchia, G.: A familial dysfunction of the eighth component of complement (C8).Clin Immunol Immunopathol 16: 180–191, 1980CrossRefPubMedGoogle Scholar
  20. Tedesco, F., Densen, P., Villa, M. A. and Petersen, B. H.: Two types of dysfunctional eighth component of complement (C8) molecules in C8 deficiency in man.J Clin Invest 71: 183–191, 1983PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag 1989

Authors and Affiliations

  • Daniela Herrmann
    • 1
  • James M. Sodetz
    • 2
  • Christian Rittner
    • 1
  • Peter M. Schneider
    • 1
  1. 1.Institut für Rechtsmedizin der Johannes Gutenberg-UniversitätMainzFederal Republic of Germany
  2. 2.Department of ChemistryUniversity of South CarolinaColumbiaSouth CarolinaUSA

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