title: The point mutation of hypoxanthine-guanine phosphoribosyltransferase (HPRTEdinburgh) and detection by allele-specific polymerase chain reaction.
abstract: 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-specific polymerase chain amplification verified the presence of the mutation in genomic DNA and provides a means of direct diagnostic assay.
authors.affiliation: Department of Paediatrics, University of Calgary, Alberta, Canada.
authors.forename: T
authors.initials: T
authors.lastname: Lightfoot
authors.forename: R
authors.initials: R
authors.lastname: Joshi
authors.forename: G
authors.initials: G
authors.lastname: Nuki
authors.forename: F F
authors.initials: FF
authors.lastname: Snyder
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency / Q000235:genetics*; D008214:Lymphocytes / Q000166:cytology; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase