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Is HPRT-like Protein Present in Lesch-Nyhan Patients?

  • D. T. Keough
  • R. B. Gordon
  • J. de Jersey
  • B. T. Emmerson
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 253A)

Abstract

A severe deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity results in the Lesch-Nyhan syndrome. Wilson et al. (1) examined the molecular basis of this deficiency in lymphoblast lysates from 15 Lesch-Nyhan patients by evaluating:
  1. (a)

    The gross structure of the HPRT gene by Southern blotting: 13 of the 15 had mutations that did not involve major gene rearrangements;

     
  2. (b)

    The concentration and molecular size of HPRT mRNA by Northern blotting: 12 had HPRT mRNA of apparently normal size and concentration; and (c) The concentration of HPRT protein by radioimmunoassay: 11 of the 15 patients had undetectable amounts of HPRT protein; the other four had 1.3, 50, 72 and 92% of normal.

     

Keywords

Severe Deficiency HPRT Gene Subunit Molecular Weight Precipitin Line Immunodiffusion Test 
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.

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References

  1. 1.
    J. M. Wilson, J. T. Stout, T. D. Palella, B. L. Davidson, W.N. Kelley and C. T. Caskey, A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man, J. Clin. Invest. 77: 188–195 (1986).PubMedCrossRefGoogle Scholar
  2. 2.
    B. L. Davidson, M. Pashmforoush, W. N. Kelley and T. D. Palella, Genetic basis of hypoxanthine guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRTFlint) Gene 63: 331–336 (1988).PubMedCrossRefGoogle Scholar
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    J. A. Holden, and W. N. Kelley, Human hypoxanthine-guanine phosphoribosyltransferase. Evidence for tetrametric structure, J. Biol. Chem. 253: 4459–4463 (1978).PubMedGoogle Scholar
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    D. T. Keough, L. A. McConachie, R. B. Gordon, J. de Jersey and B. T. Emmerson, Human hypoxanthine-guanine phosphoribosyltransferase. Development of a spectrometric assay and its use in detection and characterization of mutant forms, Clin. Chim. Acta 163: 301–308 (1987).PubMedCrossRefGoogle Scholar
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    J. M. Wilson, B. Wade-Baugher, L. Lauder and W. N. Kelley, Purification and characterization of mutant forms of the enzyme, J. Biol. Chem. 256: 10306–10312.Google Scholar
  6. 6.
    D. T. Keough, R. B. Gordon, J. de Jersey and B. T. Emmerson, Biochemical basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in nine families, J. Inner. Metab. Dis. in press (1988).Google Scholar

Copyright information

© Plenum Press, New York 1989

Authors and Affiliations

  • D. T. Keough
    • 1
  • R. B. Gordon
    • 1
  • J. de Jersey
    • 1
    • 2
  • B. T. Emmerson
    • 1
  1. 1.Department of MedicineUniversity of QueenslandBrisbaneAustralia
  2. 2.Department of BiochemistryUniversity of QueenslandBrisbaneAustralia

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