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Detection of Hypoxanthine Guanine Phosphoribosyl Transferase Heterozygotes by Thin Layer Chromatography and Autoradiography

  • Theodore Page
  • Bohdan Bakay
  • William L. Nyhan
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 165)

Abstract

An almost complete deficiency of the enzyme hypoxanthine guanine phosphoribosyl transferase (HPRT) is known to be the cause of the Lesch—Nyhan syndrome (1,2). The gene for HPRT is located on the X—chromosome, so that heterozygous females show two populations of cells, one HPRT+ and one HPRT, as predicted by the hypothesis of Lyon (3,4). Such mosaicism has been demonstrated in populations of cultured fibroblasts and in hair root follicles of heterozygotes (4,5).

Keywords

Hair Root Magnesium Hydroxide Sodium Formate Magnesium Acetate Tissue Culture Method 
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References

  1. 1.
    Lesch, M., and Nyhan, W.L., 1964, Am. J. Med., 36: 561.PubMedCrossRefGoogle Scholar
  2. 2.
    Seegmiller, J.E., Rosenbloom, F.M., and Kelley, W.N., 1967, Science, 155: 1682.PubMedCrossRefGoogle Scholar
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    Lyon, M.F., 1972, Biol. Rev., 47: 1.PubMedCrossRefGoogle Scholar
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    Migeon, B.R., der Kaloustian, V.M., Nyhan, W.L., Yong, W.J., and Childs, B., 1968, Science, 160: 425.PubMedCrossRefGoogle Scholar
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    Goldstein, J.L., Marks, J.F., and Gartler, S.M., 1971, Proc. Nat. Acad. Sci., 68: 1425.Google Scholar
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    Franke, U., Felsenstein, J., Gartler, S.M., Migeon, B.R., Dancis, J., Seegmiller, J.E., Bakay, B., and Nyhan, W.L., 1976, Amer. J. Hum. Genet., 28: 123.Google Scholar

Copyright information

© Plenum Press, New York 1984

Authors and Affiliations

  • Theodore Page
    • 1
  • Bohdan Bakay
    • 1
  • William L. Nyhan
    • 1
  1. 1.Department of PediatricsUniversity of California, San DiegoLa JollaUSA

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