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Genomics. 1991 Jun;10(2):499-501.

Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects.

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Department of Internal Medicine, Rackham Arthritis Research Unit, University of Michigan, Ann Arbor 48109.


Hypoxanthine--guanine phosphoribosyltransferase (HPRT) is a purine salvage enzyme that catalyzes the conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate. Previous studies of mutant HPRT proteins analyzed at the molecular level have shown a significant heterogeneity. This investigation further verifies this heterogeneity and identifies insertions, deletions, and point mutations. The direct sequencing of the polymerase chain reaction-amplified product of reverse-transcribed HPRT mRNA enabled the rapid identification of the mutations found in 17 previously uncharacterized cell lines derived from patients with the Lesch-Nyhan syndrome.

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