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)


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.



Severe Deficiency HPRT Gene Subunit Molecular Weight Precipitin Line Immunodiffusion Test 
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  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
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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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