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Genetic polymorphism of the second component of human complement (C2)

Presentation of a modified typing technique and data on C2 phenotype distribution, linkage genetics, and haplotype associations a Norwegian family material

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Summary

Proteins were separated by prolonged isoelectric focusing in polyacrylamide gels, whereupon C2 bands were detected by a specific hemolytic assay. This was performed by treating the gel with iodine to increase C2 activity, and then developing C2 bands with an agarose gel overlay containing sensitized sheep cells and diluted human serum as a complement source deficient in functional C2. The gene frequencies observed in a material of 122 unrelated adults were: C21:0.97 and C22:0.03.

C2 linkage relations and C2 haplotype associations have been examined a family material. It is concluded that C2 is very closely linked to HLA loci.

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References

  • Alper, C. A.: Inherited structural polymorphism in human C2: Evidence for genetic linkage between C2 and Bf. J. Exp. Med. 144, 1111–1115 (1976)

    Google Scholar 

  • Arnason, A., Larsen, B., Marshall, W. H., Edwards, J. H., Mackintosh, P., Olaisen, B., Teisberg, P.: Very close linkage between HLA-B and Bf. Nature 268, 527–528 (1977)

    Google Scholar 

  • Day, N. K., Rubinstein, P., Case, D., Hansen, J. A., Good, R. A., Walker, M.-E., Tulchin, N., Dupont, B., Jersild, C.: Linkage of gene for C2 deficiency and the major histocompatibility complex in man. Family study of a further case. Vox Sang. 31, 96–102 (1976)

    Google Scholar 

  • Friend, P., Kim, Y., Handwerger, B., Reinsmoen, N., Michael, A., Yunis, E.: C2 deficiency in man. Relationship, including probable genetic mapping, to the mixed lymphocyte reaction stimulator (S or LD) determinant short 7a. Histocompatibility Testing 1975, pp. 928–932. Copenhagen: Munksgaard 1975

    Google Scholar 

  • Fu, S. M., Kunkel, H. G., Brusman, H. P., Allen, F. H., Jr., Fotino, M.: Evidence of linkage between HLA histocompatibility genes and those involved in the synthesis of the second component of complement. J. Exp. Med. 140, 1108–1111 (1974)

    Google Scholar 

  • Fu, S. M., Stern, R., Kunkel, H. G., Dupont, B., Hansen, J. A., Day, N. K., Good, R. A., Jersild, C., Fotino, M.: LD-7a association with C2 deficiency in five of six families. Histocompatibility Testing 1975, pp. 933–936. Copenhagen: Munksgaard 1975

    Google Scholar 

  • Hobart, M. J., Lachmann, P. J.: Allotypes of complement components in man. Transplant. Rev. 32, 26–42 (1976)

    Google Scholar 

  • Karlsson, C., Davies, H., Øhman, J., Andersson, U.-B.: LKB 2117 Multiphor. 1. Analytical thin layer gel electrofocusing in polyacrylamide gel. Application note No. 75. LKB-Produkter AB. Stockholm 1973

    Google Scholar 

  • Meo, T., Atkinson, J., Bernoco, M., Bernoco, D., Ceppelini, R.: Structural heterogeneity of C2 complement protein and its genetic variants in man: A new polymorphism in the HLA region. Proc. Natl. Acad. Sci. USA 74, 1672–1675 (1977)

    Google Scholar 

  • Olaisen, B., Gedde-Dahl, T., Jr.: Gpt-EBS linkage group. General linkage relations. Hum. Hered. 24, 178–185 (1974)

    Google Scholar 

  • Olaisen, B., Teisberg, P., Gedde-Dahl, T., Jr., Thorsby, E.: The Bf locus in the HLA region of chromosome 6: Linkage and association studies. Hum. Genet. 30, 291–296 (1975)

    Google Scholar 

  • Polley, M. J.: Enhancement of hemolytic complement activity by treatment of human serum with iodine. J. Immunol. 107, 1493–1495 (1971)

    Google Scholar 

  • Teisberg, P., Olaisen, B., Gedde-Dahl, T., Jr., Thorsby, E., Aakesson, I.: Genetic polymorphism of C4 in man and the localisation of a structural C4 locus to the HLA region of chromosome 6. Nature 264, 253–254 (1976)

    Google Scholar 

  • Teisberg, P., Olaisen, B., Jonassen, R., Gedde-Dahl, T., Jr., Thorsby, E.: The genetic polymorphism of the fourth component of human complement (C4): Methodological aspects and a presentation of linkage and association data relevant to its localisation in the HLA region. J. Exp. Med. 146, 1380–1389 (1977)

    Google Scholar 

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Olaisen, B., Teisberg, P., Gedde-Dahl, T. et al. Genetic polymorphism of the second component of human complement (C2). Hum Genet 42, 301–305 (1978). https://doi.org/10.1007/BF00291310

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