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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1987 Oct;41(4):645–653.

Genetic studies of low-abundance human plasma proteins. VI. Polymorphism of hemopexin.

M I Kamboh 1, R E Ferrell 1
PMCID: PMC1684324  PMID: 3661561

Abstract

An analytical isoelectric focusing method in 3 M urea followed by immunoblotting has been devised to detect genetic and biochemical variation in the glycoprotein hemopexin (HPX) in human plasma or serum. HPX reveals extensive microheterogeneity with multiple major and minor components that are susceptible to neuraminidase treatment, suggesting that the observed biochemical variation is due to differences in sialic acid content between HPX isoproteins. However, charge differences that persist in HPX isoproteins following neuraminidase treatment suggest the presence of genetically determined HPX variation, and this is confirmed by population and family studies. HPX was found to be monomorphic, with an invariant pattern, in U.S. whites; but it is polymorphic in U.S. blacks, with three alleles controlled by a single locus, a situation that demonstrates an autosomal codominant pattern of inheritance. The HPX 1, HPX 2, and HPX 3 allele frequencies in U.S. blacks are .941, .018, and .041, respectively.

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Selected References

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

  1. Altruda F., Poli V., Restagno G., Argos P., Cortese R., Silengo L. The primary structure of human hemopexin deduced from cDNA sequence: evidence for internal, repeating homology. Nucleic Acids Res. 1985 Jun 11;13(11):3841–3859. doi: 10.1093/nar/13.11.3841. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Baker L. N. A new allele, Hp4, in the hemopexin system in pigs. Vox Sang. 1967 May;12(5):397–400. doi: 10.1111/j.1423-0410.1967.tb03369.x. [DOI] [PubMed] [Google Scholar]
  3. Foidart M., Liem H. H., Adornato B. T., Engel W. K., Muller-Eberhard U. Hemopexin metabolism in patients with altered serum levels. J Lab Clin Med. 1983 Nov;102(5):838–846. [PubMed] [Google Scholar]
  4. Grunder A. A. Inheritance of a heme-binding protein in rabbits. Genetics. 1966 Nov;54(5):1085–1093. doi: 10.1093/genetics/54.5.1085. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. HEIMBURGER N., HEIDE K., HAUPT H., SCHULTZE H. E. BAUSTEINANALYSEN VON HUMANSERUMPROTEINEN. Clin Chim Acta. 1964 Oct;10:293–307. doi: 10.1016/0009-8981(64)90059-2. [DOI] [PubMed] [Google Scholar]
  6. Hayem-Lévy A., Havez R. Isolement et étude de l'hémopexine humaine. Clin Chim Acta. 1973 Aug 30;47(2):113–122. doi: 10.1016/0009-8981(73)90305-7. [DOI] [PubMed] [Google Scholar]
  7. Hrkal Z., Muller-Eberhard U. Partial characterization of the heme-binding serum glycoproteins rabbit and human hemopexin. Biochemistry. 1971 May 11;10(10):1746–1750. doi: 10.1021/bi00786a002. [DOI] [PubMed] [Google Scholar]
  8. Kamboh M. I., Ferrell R. E. A sensitive immunoblotting technique to identify thyroxin-binding globulin protein heterogeneity after isoelectric focusing. Biochem Genet. 1986 Apr;24(3-4):273–280. doi: 10.1007/BF00502794. [DOI] [PubMed] [Google Scholar]
  9. Morgan W. T., Capra J. D., Kehoe J. M., Muller-Eberhard U. Human and rabbit hemopexins: tryptic peptides and N-terminal sequences. FEBS Lett. 1974 Nov 1;48(1):109–113. doi: 10.1016/0014-5793(74)81074-4. [DOI] [PubMed] [Google Scholar]
  10. Muller-Eberhard U. Hemopexin. N Engl J Med. 1970 Nov 12;283(20):1090–1094. doi: 10.1056/NEJM197011122832007. [DOI] [PubMed] [Google Scholar]
  11. NEALE F. C., ABER G. M., NORTHAM B. E. The demonstration of intravascular haemolysis by means of serum paper electrophoresis and a modification of Schumm's reaction. J Clin Pathol. 1958 May;11(3):206–219. doi: 10.1136/jcp.11.3.206. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Smith A., Morgan W. T. Hemopexin-mediated heme transport to the liver. Evidence for a heme-binding protein in liver plasma membranes. J Biol Chem. 1985 Jul 15;260(14):8325–8329. [PubMed] [Google Scholar]
  13. Stewart R. E., Lovrien E. W. Haemopexin in human serum: a search for genetic polymorphosm. Ann Hum Genet. 1971 Jul;35(1):19–24. doi: 10.1111/j.1469-1809.1956.tb01374.x. [DOI] [PubMed] [Google Scholar]
  14. Stratil A., Glasnák V., Tomásek V., Williams J., Clamp J. R. Haemopexin in sheep, mouflon and goat: genetic polymorphism, heterogeneity and partial characterization. Anim Blood Groups Biochem Genet. 1984;15(4):285–297. doi: 10.1111/j.1365-2052.1984.tb01128.x. [DOI] [PubMed] [Google Scholar]
  15. Takahashi N., Takahashi Y., Putnam F. W. Complete amino acid sequence of human hemopexin, the heme-binding protein of serum. Proc Natl Acad Sci U S A. 1985 Jan;82(1):73–77. doi: 10.1073/pnas.82.1.73. [DOI] [PMC free article] [PubMed] [Google Scholar]

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