Lesch-Nyhan syndrome due to a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale).
We have cloned and sequenced a full length cDNA for HPRT cDNA for HPRTYale isolated from Lesch-Nyhan subject and identified a single nucleotide substitution which results in amino acid substitution of glycine to arginine. Since most HPRT mutants have normal levels of specific HPRT messenger RNA, mutant cDNA analysis is the method of choice to define the mutation in HPRT deficient subjects.
Fujimori
S
S
Department of Internal Medicine, University of Michigan Medical School, Ann Arbor.
Davidson
B L
BL
Kelley
W N
WN
Palella
T D
TD
D000595:Amino Acid Sequence; D001483:Base Sequence; D003001:Cloning, Molecular; D004247:DNA; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000097:blood / Q000172:deficiency / Q000235:genetics*; D007926:Lesch-Nyhan Syndrome / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation
D004247:DNA; D007041:Hypoxanthine Phosphoribosyltransferase