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.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Emmerson, B.T., Thompson, C.J. and Wallace, D.C. (1972). Ann. Intern Med. 76:285–287.
Fugimoto, W.Y. and Seegmiller, J.E. (1970). Proc. Nat. Acad. Sci. 65:577–584.
Albertini, R.J. and DeMars, R. (1974). Biochem. Genet. 11: 397–411.
Benke, P.J., Herrick, N. and Herbert, A. (1973). Biochem. Med. 8:309–323.
Raivio, K.O. and Seegmiller, J.E. (1973). Biochim. Biophys. Acta 299:273–282.
Hawkins, R.A. and Berlin, R.D. (1969). Biochim. Biophys. Acta 173:324–337.
Berlin, R.D. (1970). Science l68:1539–1545.
Zylka, J.M. and Plagemann, P.G.W. (1975). J. Biol. Chem. 250:5756–5767
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1977 Plenum Press, New York
About this chapter
Cite this chapter
Gordon, R.B., Thompson, L., Emmerson, B.T. (1977). Partial HPRT Deficiency : Heterozygotes Exhibit One Cell Population in Intact Cell Assays. In: Müller, M.M., Kaiser, E., Seegmiller, J.E. (eds) Purine Metabolism in Man—II. Advances in Experimental Medicine and Biology. Springer, Boston, MA. https://doi.org/10.1007/978-1-4613-4223-6_39
Download citation
DOI: https://doi.org/10.1007/978-1-4613-4223-6_39
Publisher Name: Springer, Boston, MA
Print ISBN: 978-1-4613-4225-0
Online ISBN: 978-1-4613-4223-6
eBook Packages: Springer Book Archive