Summary
A C4 variant found in about 5% of the population is described. The fast-moving part of this variant is governed by an allele (F x) codominant to F. The F x allele is in very strong linkage disequilibrium with HLA-B17 as the linkage disequilibrium parameter accounted for nearly 100% of the haplotype frequency of B17, F x. The strong association is also evidenced by the study of 11 families segregating for the F x allele. There was no instance of recombination between C4 and HLA in 36 informative meioses.
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Alper, C. A., Boenisch, T., Watson, L.: Genetic polymorphism in human glycine-rich beta-glycoprotein. J. Exp. Med. 135, 68–80 (1972)
Bach, S., Ruddy, S., MacLaren, J. A., Austen, K. F.: Electrophoretic polymorphism of the fourth component of human complement (C4) in paired maternal and foetal plasmas. Immunology 21, 869–878 (1971)
Hauptmann, G., Grosshans, E., Heid, E.: Lupus érythémateux aigne et déficit héréditaire en complement. A propos d'un cas par déficit complet en C4. Ann. Dermatol. Syphiligr. 101, 479–496 (1974)
Kissmeyer-Nielsen, F., Kjerbye, K. E.: Lymphocytotoxic microtechnique purification of lymphocytes by flotation. In: Histocompatibility testing, E. S. Curtoni, P. L. Mattiuz, R. M. Tosi (eds.), pp. 381–383. Copenhagen: Munksgaard 1967
Lachmann, P. L., Hobart, M. J.: Complement technology. In: Handbook of experimental immunology, D. M. Weir (ed.), pp. 5A.1–5A.23. Oxford: Blackwell Scientific Publications 1978
Lamm, L. U., Weitkamp, L. R., Jensson, O., Bruun Petersen, G., Kissmeyer-Nielsen, F.: On the mapping of PGM3, GLO, and HLA. Tissue Antigens 11, 132–138 (1978)
Mattiuz, P. L., Ihde, D., Piazza, A., Ceppellini, R., Bodmer, W. F.: New approaches to the population genetic and segregation analysis of the HL-A system. In: Histocompatibility testing, P. I. Terasaki (ed.), pp. 193–205. Copenhagen: Munksgaard 1970
Mauff, G., Bender, K., Fischer, B.: Genetic polymorphism of the fourth component of human complement. Vox Sang. 34, 296–301 (1978)
Ochs, H. D., Rosenfeld, S. I., Thomas, E. D., Giblett, E. R., Alper, C. A., Dupont, B., Schaller, J. G., Gilliland, B. C., Hansen, J. A., Wedgwood, R. J.: Linkage between the gene (or genes) controlling synthesis of the fourth component of complement and the major histocompatibility complex. N. Engl. J. Med. 296, 470–475 (1977)
O'Neill, G. J., Yang, S. Y., Tegoli, J., Berger, R., Dupont, B.: Chido and Rodger's blood groups are distinct antigenic components of human complement C4. Nature 273, 668–670 (1978a)
O'Neill, G. J., Yang, S. Y., Dupont, B.: Two HLA-linked loci controlling the fourth component of human complement. Proc. Natl. Acad. Sci. USA 75, 5165–5169 (1978b)
Rittner, C., Hauptmann, G., Grosse-Wilde, H., Grosshans, E., Tongio, M. M., Mayer, S.: Linkage between HLA (major histocompatibility complex) and genes controlling the synthesis of the fourth component of complement. In: Histocompatibility testing, F. Kissmeyer-Nielsen (ed.), pp. 945–953. Copenhagen: Munksgaard 1975
Rosenfeld, S. I., Ruddy, S., Austen, K. F.: Structural polymorphism of th fourth component of human complement. J. Clin. Invest. 48, 2283–2292 (1969)
Teisberg, P., Åkesson, I., Olaisen, B., Gedde-Dahl, T., Thorsby, E.: Genetic polymorphism of C4 in man and localisation of a structural C4 locus to the HLA gene complex of chromosome 6. Nature 264, 253–254 (1976)
Teisberg, P., Olaisen, B., Jonassen, R., Gedde-Dahl, T., Thorsby, E.: The genetic polymorphism of the fourth component of human complement: Methodological aspects and a presentation of linkage and association data relevant to its localization in the HLA region. J. Exp. Med. 146, 1380–1389 (1977)
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Petersen, G.B., Sørensen, I.J., Buskjær, L. et al. Genetic studies of complement C4 in man. Hum Genet 53, 31–36 (1979). https://doi.org/10.1007/BF00289447
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DOI: https://doi.org/10.1007/BF00289447