Article
The molecular characterisation of HPRT CHERMSIDE and HPRT COORPAROO: two Lesch-Nyhan patients with reduced amounts of mRNA.
Gene - 15 Dec 1991
Gordon R B, Dawson P A, Sculley D G, Emmerson B T, Caskey C T, Gibbs R A
Abstract excerpt
A complete deficiency of the purine salvage enzyme, hypoxanthine phosphoribosyltransferase (HPRT; EC 2.4.2.8), in man results in the Lesch-Nyhan (LN) syndrome. Two unrelated patients with the full LN syndrome showed no evidence of a major alteration to the gene encoding HPRT (HPRT) by restriction endonuclease analysis, but exhibited negligible levels of HPRT mRNA on Northern blots. DNA from these patients was...
Topics
- Base Sequence
- Blotting, Northern
- Codon
- Exons
- Female
- Humans
- Hypoxanthine Phosphoribosyltransferase
- Lesch-Nyhan Syndrome
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction