Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects.
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.
Tarlé
S A
SA
Department of Internal Medicine, Rackham Arthritis Research Unit, University of Michigan, Ann Arbor 48109.
Davidson
B L
BL
Wu
V C
VC
Zidar
F J
FJ
Seegmiller
J E
JE
Kelley
W N
WN
Palella
T D
TD
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
D007041:Hypoxanthine Phosphoribosyltransferase