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Human Genetics

, Volume 81, Issue 1, pp 93–94 | Cite as

Genetic studies of low-abundance human plasma proteins

IX. A new allele at the complement subcomponent C1R structural locus
  • M. I. Kamboh
  • L. Lyons
  • R. E. Ferrell
Short Communications

Summary

Genetic variation in the C1R subcomponent of the first complement component C1 was investigated in U.S. whites by isoelectric focusing and immunoblotting. In addition to the previously described two alleles, the products of a new and rare third allele designated C1R*3 were detected. The expression of the new allele is consistent with autosomal codominant inheritance, which is confirmed by family data. The frequencies of the C1R*1, C1R*2 and C1R*3 alleles in 201 randomly selected U.S. whites are: 0.908, 0.090, and 0.002, respectively.

Keywords

Internal Medicine Genetic Variation Metabolic Disease Genetic Study Plasma Protein 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. Cooper NR (1985) The classical complement pathway: activation and regulation of the first complement component. Adv Immunol 37: 151–216Google Scholar
  2. Escallon ME, Ferrell RE, Kamboh MI (1987) Genetic studies of low abundance human plasma proteins. V. Evidence for a second orosomucoid structural locus (OPM2) expressed in plasma. Am J Hum Genet 41:418–427Google Scholar
  3. Kamboh MI, Ferrell RE (1986) Genetic studies of low abundance human plasma proteins. III. Polymorphism of the C1R subcomponent of the first complement component. Am J Hum Genet 39:826–831Google Scholar
  4. Kamboh MI, Ferrell RE (1987) Genetic studies of low-abundance human plasma proteins. VII. Structural heterogeneity of the C1S subcomponent of the first complement component. J Immunogenet 14:231–238Google Scholar
  5. Lepow IH, Naff GB, Todd EW, Pensky J, Hinz CF (1965) Chromatographic resolution of human complement into three activities. J Exp Med 17:983–1008Google Scholar
  6. Leppert M, Ferrell RE, Kamboh MI, Bosley J, O'Connell P, Lethrop M, Lalovel JM, White R (1987) Linkage of the pollymorphic protein markers F13B, C1S, C1R, and blood group antigen kidd in CEPH references families. (9th International Workshop on Human Gene Mapping) Cytogenet Cell Genet 46:647Google Scholar

Copyright information

© Springer-Verlag 1988

Authors and Affiliations

  • M. I. Kamboh
    • 1
  • L. Lyons
    • 1
  • R. E. Ferrell
    • 1
  1. 1.Human Genetics Division, Department of Biostatistics, Graduate School of Public HealthUniversity of PittsburghPittsburghUSA

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