The point mutation of hypoxanthine-guanine phosphoribosyltransferase (HPRTEdinburgh) and detection by allele-specific polymerase chain reaction.

doi:10.1007/BF02265300

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Article

The point mutation of hypoxanthine-guanine phosphoribosyltransferase (HPRTEdinburgh) and detection by allele-specific polymerase chain reaction.

Human genetics - 1 Mar 1992

Lightfoot T, Joshi R, Nuki G, Snyder F F

Abstract excerpt

The change in DNA responsible for partial hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency in three brothers has been determined by polymerase chain amplification and sequencing. An A-to-G substitution at base 155 in exon 3 predicts a change in aspartic acid 52 to glycine. Allele-...

Topics

Adolescent
Adult
Base Sequence
Humans
Hypoxanthine Phosphoribosyltransferase
Lymphocytes
Male
Molecular Sequence Data
Mutation
Polymerase Chain Reaction

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