Skip to main content
PMC home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1984 Jan;36(1):72–79.

Human C4 haplotypes with duplicated C4A or C4B.

D Raum, Z Awdeh, J Anderson, L Strong, J Granados, L Teran, E Giblett, E J Yunis, C A Alper
PMCID: PMC1684397  PMID: 6607672

Abstract

In the course of study of families for the sixth chromosome markers HLA-A, C, B, D/DR, BF, and C2, the two loci for C4, C4A, and C4B, and glyoxalase I, we encountered five examples of probable duplication of one or the other of the two loci for C4. In one of these, both parents and one sib expressed two different structural genes for C4B, one sib expressed one, and one sib expressed none, suggesting that two C4B alleles were carried on a single haplotype: HLA-A2, B7, DR3, BFS1, C2C, C4A2, C4B1, C4B2, GLO1. In a second case, two siblings inherited C4B*1 and C4B*2 from one parent and C4B*Q0 from the other. This duplication appeared on the chromosome as HLA-AW33, B14, DR1, BFS, C2C, C4A2, C4B1, C4B2, GLO2. In a third, very large family with 3 generations, a duplication of the C4B locus occurred which was followed in 2 generations. In one individual, there were three C4B alleles and two C4A alleles. One of the C4B alleles had a hemolytically active product with electrophoretic mobility near C4B2 and was designated C4B*22. It segregated with C4B1 in the family studied. The complete haplotype was HLA-A11, CW1, BW56, DR5, BFS, C2C, C4A3, C4B22, C4B1, GLO2. In another family with 12 siblings, one parent and eight children expressed two C4A alleles on the haplotype HLA-AW30, BW38, DR1, BFF, C2C, C4A3, C4A2, C4BQ0, GLO1.(ABSTRACT TRUNCATED AT 250 WORDS)

Full text

PDF
72

Images in this article

76Fig. 1
on p.76
77Fig. 3
on p.77

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Alper C. A., Boenisch T., Watson L. Genetic polymorphism in human glycine-rich beta-glycoprotein. J Exp Med. 1972 Jan;135(1):68–80. doi: 10.1084/jem.135.1.68. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Alper C. A. Inherited structural polymorphism in human C2: evidence for genetic linkage between C2 and Bf. J Exp Med. 1976 Oct 1;144(4):1111–1115. doi: 10.1084/jem.144.4.1111. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Alper C. A., Raum D., Karp S., Awdeh Z. L., Yunis E. J. Serum complement 'supergenes' of the major histocompatibility complex in man (complotypes). Vox Sang. 1983;45(1):62–67. doi: 10.1111/j.1423-0410.1983.tb04124.x. [DOI] [PubMed] [Google Scholar]
  4. Awdeh Z. L., Alper C. A. Inherited polymorphism of human C4 as revealed by desialyzation. Immunobiology. 1980;158(1-2):35–41. doi: 10.1016/s0171-2985(80)80035-0. [DOI] [PubMed] [Google Scholar]
  5. Awdeh Z. L., Alper C. A. Inherited structural polymorphism of the fourth component of human complement. Proc Natl Acad Sci U S A. 1980 Jun;77(6):3576–3580. doi: 10.1073/pnas.77.6.3576. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Awdeh Z. L., Ochs H. D., Alper C. A. Genetic analysis of C4 deficiency. J Clin Invest. 1981 Jan;67(1):260–263. doi: 10.1172/JCI110021. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Awdeh Z. L., Raum D., Alper C. A. Genetic polymorphism of human complement C4 and detection of heterozygotes. Nature. 1979 Nov 8;282(5735):205–207. doi: 10.1038/282205a0. [DOI] [PubMed] [Google Scholar]
  8. Awdeh Z. L., Raum D., Yunis E. J., Alper C. A. Extended HLA/complement allele haplotypes: evidence for T/t-like complex in man. Proc Natl Acad Sci U S A. 1983 Jan;80(1):259–263. doi: 10.1073/pnas.80.1.259. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Bruun-Petersen G., Lamm L. U., Jacobsen B. K., Kristensen T. Genetics of complement C4. Two homoduplication haplotypes C4S C4S and C4F C4F in a family. Hum Genet. 1982;61(1):36–38. doi: 10.1007/BF00291328. [DOI] [PubMed] [Google Scholar]
  10. Dozy A. M., Kan Y. W., Embury S. H., Mentzer W. C., Wang W. C., Lubin B., Davis J. R., Jr, Koenig H. M. alpha-Globin gene organisation in blacks precludes the severe form of alpha-thalassaemia. Nature. 1979 Aug 16;280(5723):605–607. doi: 10.1038/280605a0. [DOI] [PubMed] [Google Scholar]
  11. Kömpf J., Bissbort S., Gussmann S., Ritter H. Polymorphism of red cell glyoxalase I (EI: 4.4.1.5); a new genetic marker in man. Investigation of 169 mother-child combinations. Humangenetik. 1975;27(2):141–143. doi: 10.1007/BF00273329. [DOI] [PubMed] [Google Scholar]
  12. Mauff G., Bender K., Fischer B. Genetic polymorphism of the fourth component of human complement. Vox Sang. 1978;34(5):296–301. doi: 10.1111/j.1423-0410.1978.tb02485.x. [DOI] [PubMed] [Google Scholar]
  13. Nordhagen R., Olaisen B., Teisberg P., Gedde-Dahl T., Jr, Thorsby E. C4 haplotype products and partial inhibition of anti-Rodgers sera. J Immunogenet. 1981 Dec;8(6):485–491. doi: 10.1111/j.1744-313x.1981.tb00957.x. [DOI] [PubMed] [Google Scholar]
  14. O'Neill G. J., Yang S. Y., Dupont B. Two HLA-linked loci controlling the fourth component of human complement. Proc Natl Acad Sci U S A. 1978 Oct;75(10):5165–5169. doi: 10.1073/pnas.75.10.5165. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. O'Neill G. J., Yang S. Y., Tegoli J., Berger R., Dupont B. Chido and Rodgers blood groups are distinct antigenic components of human complement C4. Nature. 1978 Jun 22;273(5664):668–670. doi: 10.1038/273668a0. [DOI] [PubMed] [Google Scholar]
  16. Olaisen B., Teisberg P., Jonassen R., Gedde-Dahl T., Jr The C4 system: formal and population genetics. Hum Genet. 1979;50(2):187–192. doi: 10.1007/BF00390240. [DOI] [PubMed] [Google Scholar]
  17. Olaisen B., Teisberg P., Nordhagen R., Michaelsen T., Gedde-Dahl T., Jr Human complement C4 locus is duplicated on some chromosomes. Nature. 1979 Jun 21;279(5715):736–737. doi: 10.1038/279736a0. [DOI] [PubMed] [Google Scholar]
  18. Orkin S. H., Old J., Lazarus H., Altay C., Gurgey A., Weatherall D. J., Nathan D. G. The molecular basis of alpha-thalassemias: frequent occurrence of dysfunctional alpha loci among non-Asians with Hb H disease. Cell. 1979 May;17(1):33–42. doi: 10.1016/0092-8674(79)90292-7. [DOI] [PubMed] [Google Scholar]
  19. Roos M. H., Mollenhauer E., Démant P., Rittner C. A molecular basis for the two locus model of human complement component C4. Nature. 1982 Aug 26;298(5877):854–856. doi: 10.1038/298854a0. [DOI] [PubMed] [Google Scholar]
  20. Rosenfeld S. I., Ruddy S., Austen K. F. Structural polymorphism of the fourth component of human complement. J Clin Invest. 1969 Dec;48(12):2283–2292. doi: 10.1172/JCI106194. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. Shreffler D. C. The Ss system of the mouse--a quantitative serum protein difference genetically controlled by the H-2 region. Wistar Inst Symp Monogr. 1965 Aug;3:11–19. [PubMed] [Google Scholar]
  22. Teisberg P., Akesson I., Olaisen B., Gedde-Dahl T., Jr, Thorsby E. Genetic polymorphism of C4 in man and localisation of a structural C4 locus to the HLA gene complex of chromosome 6. Nature. 1976 Nov 18;264(5583):253–254. doi: 10.1038/264253a0. [DOI] [PubMed] [Google Scholar]
  23. Teisberg P., Olaisen B., Jonassen R., Gedde-Dahl T., Jr, 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. 1977 Nov 1;146(5):1380–1389. doi: 10.1084/jem.146.5.1380. [DOI] [PMC free article] [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES