Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification |
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Authors: | Donna G. Sculley Paul A. Dawson Ifor R. Beacham Bryan T. Emmerson Ross B. Gordon |
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Affiliation: | (1) Department of Medicine, University of Queensland, Brisbane, Australia;(2) Division of Science and Technology, Griffith University, Brisbane, Australia;(3) Present address: Department of Medicine, 5th Floor, Princess Alexandra Hospital, University of Queensland, Ipswich Road, 4102 Woolloongabba, Queensland, Australia |
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Abstract: | 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. |
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