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Characterization of Genomic DNA, mRNA and Enzyme Protein in Cases of HPRT Deficiency

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

Abstract

Studies have been undertaken to define the molecular basis of HPRT-deficiency in a number of patients presenting with a wide spectrum of clinical symptoms (including gout and the Lesch-Nyhan syndrome). In these patients the concentration of HPRT cross-reacting material(CRM) as well as the presence of HPRT-mRNA and the absence of gross abnormalities in HPRT gene structure have been determined. 1, 2 Such studies are aimed at selecting those patients with possible point mutations in the HPRT coding region and are important in determining strategies for further study of the mutation, e. g. via enzyme purification and peptide analysis or via synthesis of cDNA from HPRT-mRNA and subsequent nucleotide sequencing.3

Keywords

BamHI Fragment Phosphoribosyl Transferase Hypoxanthine Phosphoribosyl Transferase HPRT Locus HPRT Deficiency 
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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Copyright information

© Plenum Press, New York 1989

Authors and Affiliations

  • R. B. Gordon
    • 1
  • D. T. Keough
    • 1
  • D. G. Sculley
    • 1
  • J. de Jersey
    • 2
  • B. T. Emmerson
    • 1
  • I. R. Beacham
    • 3
  1. 1.Department of MedicineUniversity of QueenslandAustralia
  2. 2.Department of BiochemistryUniversity of QueenslandAustralia
  3. 3.School of Science Griffith UniversityBrisbaneAustralia

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