Human Genetics

, Volume 87, Issue 6, pp 688–692

Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification

  • Donna G. Sculley
  • Paul A. Dawson
  • Ifor R. Beacham
  • Bryan T. Emmerson
  • Ross B. Gordon
Original Investigations

DOI: 10.1007/BF00201727

Cite this article as:
Sculley, D.G., Dawson, P.A., Beacham, I.R. et al. Hum Genet (1991) 87: 688. doi:10.1007/BF00201727
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Summary

The Lesch-Nyhan syndrome is a severe X chromosome-linked human disease caused by a virtual absence of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity. A partial deficiency in the activity of this enzyme can result in gouty arthritis. To determine the genetic basis for reduction or loss of enzyme activity, we have amplified and sequenced the coding region of HPRT cDNA from four patients: one with LeschNyhan syndrome (HPRTPerth) and three with partial deficiencies of HPRT activity, which have been designated HPRTUrangan, HPRTSwan and HPRTToowong. In all four patients, the only mutation identified was a single base substitution in exons 2 or 3 of the coding region, which in each case predicts a single amino acid substitution in the translated protein. Each base change was confirmed by allele-specific amplification of the patient's genomic DNA. It is interesting to note that the mutation found for HPRTPerth is identical to that reported for HPRTFlint. It appears that the two mutations are de novo events.

Copyright information

© Springer-Verlag 1991

Authors and Affiliations

  • Donna G. Sculley
    • 1
  • Paul A. Dawson
    • 1
  • Ifor R. Beacham
    • 2
  • Bryan T. Emmerson
    • 1
  • Ross B. Gordon
    • 1
  1. 1.Department of MedicineUniversity of QueenslandBrisbaneAustralia
  2. 2.Division of Science and TechnologyGriffith UniversityBrisbaneAustralia
  3. 3.Department of Medicine, 5th Floor, Princess Alexandra HospitalUniversity of QueenslandWoolloongabba, QueenslandAustralia

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