Advertisement

Partial HPRT Deficiency : Heterozygotes Exhibit One Cell Population in Intact Cell Assays

  • R. B. Gordon
  • L. Thompson
  • B. T. Emmerson
Chapter
Part of the Advances in Experimental Medicine and Biology book series

Abstract

Heterozygotes for the partial deficiency of HPRT exhibit levels of enzyme activity in cell lysates which are intermediate between the activity values obtained for normal individuals and those for severely deficient patients (1). The likely interpretation of this finding is that these intermediate enzyme activities reflect varying proportions of HPRT-normal and HPRT-deficient cells. The present report summarises studies on heterozygotes from several families with partial HPRT deficiency.

Keywords

Mutant Cell Partial Deficiency Base Transport Princess Alexandra Hospital Expected Observe 
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.
    Emmerson, B.T., Thompson, C.J. and Wallace, D.C. (1972). Ann. Intern Med. 76:285–287.PubMedGoogle Scholar
  2. 2.
    Fugimoto, W.Y. and Seegmiller, J.E. (1970). Proc. Nat. Acad. Sci. 65:577–584.CrossRefGoogle Scholar
  3. 3.
    Albertini, R.J. and DeMars, R. (1974). Biochem. Genet. 11: 397–411.PubMedCrossRefGoogle Scholar
  4. 4.
    Benke, P.J., Herrick, N. and Herbert, A. (1973). Biochem. Med. 8:309–323.PubMedCrossRefGoogle Scholar
  5. 5.
    Raivio, K.O. and Seegmiller, J.E. (1973). Biochim. Biophys. Acta 299:273–282.PubMedCrossRefGoogle Scholar
  6. 6.
    Hawkins, R.A. and Berlin, R.D. (1969). Biochim. Biophys. Acta 173:324–337.PubMedCrossRefGoogle Scholar
  7. 7.
    Berlin, R.D. (1970). Science l68:1539–1545.CrossRefGoogle Scholar
  8. 8.
    Zylka, J.M. and Plagemann, P.G.W. (1975). J. Biol. Chem. 250:5756–5767PubMedGoogle Scholar

Copyright information

© Plenum Press, New York 1977

Authors and Affiliations

  • R. B. Gordon
    • 1
    • 2
  • L. Thompson
    • 1
    • 2
  • B. T. Emmerson
    • 1
    • 2
  1. 1.Department of MedicineUniversity of QueenslandAustralia
  2. 2.Princess Alexandra HospitalBrisbaneAustralia

Personalised recommendations