Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification.

doi:10.1007/BF00201727

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Article

Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification.

Human genetics - 1 Oct 1991

Sculley D G, Dawson P A, Beacham I R, Emmerson B T, Gordon R B

Abstract excerpt

The Lesch-Nyhan syndrome is a severe X chromosome-linked human disease caused by a virtual absence of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity. A partial deficiency in the activity of this enzyme can result in gouty arthritis. To determine the genetic basis for reduction or...

Topics

Alleles
Base Sequence
Cells, Cultured
Cloning, Molecular
DNA
Humans
Hypoxanthine Phosphoribosyltransferase
Molecular Sequence Data
Mutation
Polymerase Chain Reaction

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