Skip to main content
SpringerLink
Log in

An electrophoretic method for detecting hypoxanthine-guanine phosphoribosyl transferase variants

  • Methods
  • Published:
Biochemical Genetics Aims and scope Submit manuscript

Abstract

An electrophoretic method that detects hypoxanthine-guanine phosphoribosyl transferase variants is described.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • Andrews, P. (1965). The gel-filtration behaviour of proteins related to their molecular weights over a wide range. Biochem. J. 96 595.

    Google Scholar 

  • Der Kaloustian, V. M., Young, W. J., and Childs, B. (1968). Unpublished data.

  • Harris, H. (1966). Enzyme polymorphisms in man. Proc. Roy. Soc. London (Series B) 164 298.

    Google Scholar 

  • Hubby, J. L., and Lewontin, R. C. (1966) A molecular approach to the study of genic heterozygosity in natural populations. I. The number of alleles at different loci in Drosophila pseudoobscura. Genetics 54 577.

    Google Scholar 

  • Kelly, W. N., Rosenbloom, F. M., Henderson, J. F., and Seegmiller, J. E. (1967). A specific enzyme defect in gout associated with overproduction of uric acid. Proc. Natl. Acad. Sci. 57 1735.

    Google Scholar 

  • Kornberg, A., Lieberman, I., and Simms, E. S. (1956). Enzymatic synthesis of purine nucleotides. J. Biol. Chem. 221 971.

    Google Scholar 

  • Migeon, B. R., Der Kaloustian, V. M., Nyhan, W. L., Young, W. J., and Childs, B. (1968). X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: Heterozygote has two clonal populations. Science 160 425.

    Google Scholar 

  • Nyhan, W. L., Pesek, J., Sweetman, L., Carpenter, D. G., and Carter, C. H. (1967). Genetics of an X-linked disorder of uric acid metabolism and cerebral function. Pediat. Res. 1 5.

    Google Scholar 

  • Seegmiller, J. E., Rosenbloom, F. M., and Kelley, W. N. (1967). Enzyme defect associated with a sexlinked human neurological disorder and excessive purine synthesis. Science 154 1682.

    Google Scholar 

  • Shapiro, S. L., Sheppard, G. L., Jr., Dreifuss, F. E., and Newcombe, D. S. (1966). X-linked recessive inheritance of a syndrome of mental retardation with hyperuricemia. Proc. Soc. Exptl. Biol. Med. 122 609.

    Google Scholar 

  • Tsukagoshi, S., Lembach, K., and Charalampous, F. C. (1966). Metabolic functions of myo-inositol. J. Biol. Chem. 241: 388.

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland

    Vazken M. Der Kaloustian & Barton Childs

  2. Department of Biophysics, Johns Hopkins University School of Medicine, Baltimore, Maryland

    Raymond Byrne & William J. Young

Authors
  1. Vazken M. Der Kaloustian
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Raymond Byrne
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. William J. Young
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Barton Childs
    View author publications

    You can also search for this author in PubMed Google Scholar

Additional information

Aided by National Institutes of Health Grants HD 00486, HD 00004, GM 14155, and AM 10813.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Der Kaloustian, V.M., Byrne, R., Young, W.J. et al. An electrophoretic method for detecting hypoxanthine-guanine phosphoribosyl transferase variants. Biochem Genet 3, 299–302 (1969). https://doi.org/10.1007/BF00521145

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00521145

Keywords

Search

Navigation