Abstract
Hypoxanthine-guanine phosphoribosyl transferase (HGPRT; E.C. 2.4.2.8) has been studied in erythrocytes of patients with Lesch-Nyhan syndrome by polyacrylamide gel electrophoresis. The location of this enzyme in gel was determined by radiochemical assay. Inosine monophosphate (the reaction product of HGPRT with radioactive hypoxanthine and 5-phosphorylribose-1-pyrophosphate) was precipitated in the gel at the site of its formation with lanthanum chloride. The zone containing radioactive inosine monophosphate was located by continuous monitoring of mechanically fractionated gels in a scintillation spectrometer. The sensitivity of this method has permitted the detection of the very low HGPRT activity in the electropherograms of hemolysates of patients with Lesch-Nyhan syndrome. Among six patients, four had a mutant enzyme which migrated 15% faster than the normal; the other two had a mutant enzyme with about 12% faster migration. These mutants were designated HGPRT-LN and HGPRT-LN slow, respectively. These observations indicate that the mutant gene on the X chromosome codes for a protein of altered structure.
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