Advertisement

Electrophoretic Variation in Partial Deficiencies of Hypoxanthine-Guanine Phosphoribosyltransferase

  • Irving H. Fox
  • Sheila Lacroix
Chapter
  • 110 Downloads
Part of the Advances in Experimental Medicine and Biology book series

Abstract

In the study of inherited abnormalities of man the demonstration of variable properties of the assayable gene products have provided evidence for structural gene mutations. Different variants from the normal have suggested heterogeneity of these mutations. Structural alterations of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) have been expressed by abnormalities of enzyme kinetic properties and physical properties in circulating erythrocytes and cultured cells.

Keywords

Mutant Enzyme Partial Deficiency Electrophoretic Variation Adenine Phosphoribosyltransferase Normal Specific Activity 
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.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Fox, I.H., Dwosh, I.L., Marchant, P.J., Lacroix, S., Moore, M.R. Omura, S. and Wyhofsky, V. 1975. Hypoxanthine-guanine phosphoribosyltransf erase: characterization of a mutation in a patient with gout. J. Clin. Invest. 56:1239–1249.PubMedCrossRefGoogle Scholar
  2. 2.
    Arnold, W.J. and Kelley, W.N. 1971. Human hypoxanthine-guanine phosphoribosyltransferase purification and subunit structure. J. Biol. Chem. 246:7398–7404.PubMedGoogle Scholar
  3. 3.
    Kelley, W.N. and Arnold, W.J. 1973. Human hypoxanthine-guanine phosphoribosyltransferase: studies on the normal and mutant forms of the enzyme. Fed. Proc. 32:1656–1659.PubMedGoogle Scholar
  4. 4.
    Der Kaloustian, V.M., Awdeh, Z.L., Haddal, R.T. and Wakid, N.W. 1973. Analysis of human hypoxanthine-guanine phosphoribosyltransferase isoenzymes by isoelectric focusing in polyacrylamide gel. Biochem. Genet. 9:91–95.CrossRefGoogle Scholar
  5. 5.
    Bakay, B. and Nyhan, W.L. 1975. Heterogeneity of hypoxanthineguanine phosphoribosyltransferase from human erythrocytes. Archiv. Biochem. Biophy. 168:26–34.CrossRefGoogle Scholar
  6. 6.
    Fox, I.H., Marchant, P.J. and Lacroix, S. 1976. Hypoxanthineguanine phosphoribosyltransferase: mosaicism in the peripheral erythrocytes of a heterozygote for a normal and a mutant enzyme. Biochem. Genet. 14:587–593.PubMedCrossRefGoogle Scholar

Copyright information

© Plenum Press, New York 1977

Authors and Affiliations

  • Irving H. Fox
    • 1
    • 2
  • Sheila Lacroix
    • 1
    • 2
  1. 1.Puring Research LaboratoryUniversity of TorontoCanada
  2. 2.Rheumatic Disease UnitWellesley HospitalTorontoCanada

Personalised recommendations