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

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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. Lesch, M., and Nyhan, W.L., 1964, Am. J. Med., 36: 561.

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  2. Seegmiller, J.E., Rosenbloom, F.M., and Kelley, W.N., 1967, Science, 155: 1682.

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  3. Lyon, M.F., 1972, Biol. Rev., 47: 1.

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  4. Migeon, B.R., der Kaloustian, V.M., Nyhan, W.L., Yong, W.J., and Childs, B., 1968, Science, 160: 425.

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  5. Goldstein, J.L., Marks, J.F., and Gartler, S.M., 1971, Proc. Nat. Acad. Sci., 68: 1425.

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  6. 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.

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© 1984 Plenum Press, New York

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Page, T., Bakay, B., Nyhan, W.L. (1984). Detection of Hypoxanthine Guanine Phosphoribosyl Transferase Heterozygotes by Thin Layer Chromatography and Autoradiography. In: De Bruyn, C.H.M.M., Simmonds, H.A., Müller, M.M. (eds) Purine Metabolism in Man-IV. Advances in Experimental Medicine and Biology, vol 165. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-4553-4_52

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  • DOI: https://doi.org/10.1007/978-1-4684-4553-4_52

  • Publisher Name: Springer, Boston, MA

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