Biochemical Genetics

, Volume 15, Issue 3–4, pp 265–272 | Cite as

Adenine phosphoribosyltransferase: A simple spectrophotometric assay and the incidence of mutation in the normal population

  • L. A. Johnson
  • R. B. Gordon
  • B. T. Emmerson


The significance of partial deficiency of erythrocyte adenine phosphoribosyltransferase (APRT), reported in a number of subjects with gout, has been investigated by studying its incidence in 700 normal blood donors. Three clearly deficient subjects were found, an incidence not significantly different from that in patients with abnormalities of urate metabolism. A new assay method for APRT is described in which an erythrocyte lysate is incubated with adenine and phosphoribosylpyrophosphate (PRPP) for a given time; both hemoglobin and adenine nucleotide (AMP) are then precipitated with lanthanum phosphate; the change in absorbance of adenine at 260 nm reflects the extent of its conversion to AMP by APRT.

Key words

adenine phosphoribosyltransferase mutation adenine phosphoribosyltransferase assay gout normal human population 


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Copyright information

© Plenum Publishing Corporation 1977

Authors and Affiliations

  • L. A. Johnson
    • 1
  • R. B. Gordon
    • 1
  • B. T. Emmerson
    • 1
  1. 1.The University of Queensland Department of MedicinePrincess Alexandra HospitalBrisbaneAustralia

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