title: Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects.
abstract: 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.
authors.affiliation: Department of Internal Medicine, Rackham Arthritis Research Unit, University of Michigan, Ann Arbor 48109.
authors.forename: S A
authors.initials: SA
authors.lastname: Tarlé
authors.forename: B L
authors.initials: BL
authors.lastname: Davidson
authors.forename: V C
authors.initials: VC
authors.lastname: Wu
authors.forename: F J
authors.initials: FJ
authors.lastname: Zidar
authors.forename: J E
authors.initials: JE
authors.lastname: Seegmiller
authors.forename: W N
authors.initials: WN
authors.lastname: Kelley
authors.forename: T D
authors.initials: TD
authors.lastname: Palella
mesh_terms: D002460:Cell Line; D004252:DNA Mutational Analysis; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics*; D007926:Lesch-Nyhan Syndrome / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase