Human Genetics

, Volume 71, Issue 1, pp 45–48

Genetic polymorphism of human factor I (C3b inactivator)

  • S. Nakamura
  • K. Abe
Original Investigations


Genetic polymorphism of human factor I (C3b inactivator) has been described using polyacrylamide gel isoelectric focusing electrophoresis of neuraminidase-treated EDTA plasma samples followed by electrophoretic blotting technique. In 435 individuals three different common patterns were observed, and these were controlled by two common alleles at a single locus. The results of typing family material confirmed autosomal codominant Mendelian inheritance. Two common alleles were designated FI*B and FI*A, and gene frequencies were estimated to be 0.8931 and 0.1069 for FI*B and FI*A, respectively. The distribution of phenotypes fitted the Hardy-Weinberg equilibrium. Linkage studies failed to show close linkage between factor I and the major histocompatibility complex.


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  1. Abramson N, Alper CA, Lachmann PJ, Rosen FS, Jandl JH (1971) Deficiency of C3 inactivator in man. J Immunol 107:19–27Google Scholar
  2. Allen FH Jr (1974) Linkage of HLA and GBG Vox Sang 27:382–384Google Scholar
  3. Alper CA, Propp RP (1968) Genetic polymorphism of the third component of human complement (C-prime-3). J Clin Invest 47:2181–2192Google Scholar
  4. Alper CA, Abramson N, Johnston RB Jr, Jandl JH, Rosen FS (1970) Increased susceptibility to infection associated with abnormalities of complement-mediated functions and of the third component of complement (C3) N Engl J Med 282:349–354Google Scholar
  5. Alper CA, Boenisch T, Watson L (1972a) Genetic polymorphism in human glycine-rich beta-glycoprotein. J Exp Med 135:68–79Google Scholar
  6. Alper CA, Rosen FS, Lachmann PJ (1972b) Inactivator of the third component of complement as an inhibitor in the properdin pathway. Proc Natl Acad Sci USA 69:2910–2913Google Scholar
  7. Alper CA, Raum D, Karp S, Awdeh ZL, Yunis EJ (1983) Serum complement “supergenes” of the major histocompatibility complex in man (complotypes) Vox Sang 45:62–67Google Scholar
  8. Awdeh ZL, Alper CA (1980) Inherited structural polymorphism of the fourth component of human complement. Proc Natl Acad Sci USA 77:3576–3580Google Scholar
  9. Azen EA, Smithies O (1968) Genetic polymorphism of C-prime-3 (beta-1C-globulin) in human serum. Science 162:905–907Google Scholar
  10. Cooper NR (1975) Isolation and analysis of the mechanism of action of an inactivator of C4b in normal human serum. J Exp Med 141:890–903Google Scholar
  11. Fujita T, Gigli I, Nussenzweig V (1978) Human C4-binding protein: II. Role in proteolysis of C4b by C3b-inactivator. J Exp Med 148:1044–1051Google Scholar
  12. Hobart MJ, Joysey V, Lachmann PJ (1978) Inherited structural variation and linkage relationships of C7. J Immunogenet 5:157–163Google Scholar
  13. Lachmann PJ, Müller-Eberhard HJ (1968) The demonstration in human serum of “conglutinogen-activating factor” and its effect on the third component of complement. J Immunol 100:691–698Google Scholar
  14. Martin A, Lachmann PJ, Halbwachs L, Hobart MJ (1976) Haemolytic diffusion plate assays for factors B and D of the alternative pathway of complement activation. Immunochemistry 13:317–324Google Scholar
  15. Nakamura S, Ooue O, Abe K (1984a) Genetic polymorphism of the seventh component of complement in a Japanese population. Hum Genet 66:279–281Google Scholar
  16. Nakamura S, Ooue O, Akiyama K, Abe K (1984b) Genetic polymorphism of complement C6 and haplotype analysis between C6 and C7 in a Japanese population. Hum Genet 68:138–141Google Scholar
  17. Pangburn MK, Schreiber RD, Müller-Eberhard HJ (1977) Human complement C3b inactivator: Isolation, characterization, and demonstration of an absolute requirement for the serum protein β1H for cleavage of C3b and C4b in solution. J Exp Med 146:257–270Google Scholar
  18. Raum D, Marcus D, Alper CA (1980) Genetic polymorphism of human plasminogen. Am J Hum Genet 32:681–689Google Scholar
  19. Raum DD, Awdeh ZL, Glass AD, Yunis E, Alper CA (1981) The location of C2, C4, and BF relative to HLA-B and HLA-D. Immunogenetics 12:473–483Google Scholar
  20. Rodriguez de Cordoba S, Rubinstein P (1984) Genetic polymorphism of human factor H (β1H) J Immunol 132:1906–1908Google Scholar
  21. Rodriguez de Cordoba S, Ferreira A, Nussenzweig V, Rubinstein P (1983) Genetic polymorphism of human C4-binding protein. J Immunol 131:1565–1569Google Scholar
  22. Ruddy S, Austen FK (1971) C3b inactivator of man: II. Fragments produced by C3b inactivator cleavage of cell-bound or fluid phase C3b. J Immunol 107:742–750Google Scholar
  23. The Nomenclature Committee of the IUIS (1981) Nomenclature of the alternative activating pathway of complement. J Immunol 127:1261–1262Google Scholar
  24. Thompson RA, Lachmann PJ (1977) A second case of human C3b inhibitor (KAF) deficiency. Clin Exp Immunol 27:23–29Google Scholar
  25. Whitehouse DB, Putt W (1983) Immunological detection of the sixth complement component (C6) following flat bed polyacrylamide gel isoelectric focusing and electrophoretic transfer to nitrocellulose filters. Ann Hum Genet 47:1–8Google Scholar

Copyright information

© Springer-Verlag 1985

Authors and Affiliations

  • S. Nakamura
    • 1
  • K. Abe
    • 1
  1. 1.Department of Legal MedicineTokyo Women's Medical CollegeTokyoJapan

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