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

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 differen...

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Bibliographic Details
Published in:Biochemical genetics 1977-04, Vol.15 (3-4), p.265-272
Main Authors: Johnson, L A, Gordon, R B, Emmerson, B T
Format: Article
Language:English
Subjects:
Adenine Phosphoribosyltransferase - blood
Erythrocytes - enzymology
Genetics, Population
Humans
Kinetics
Mutation
Pentosyltransferases - blood
Spectrophotometry, Ultraviolet - methods
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Summary: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.
ISSN:0006-2928
1573-4927
DOI:10.1007/BF00484458