title: Screening for molecular pathologies in Lesch-Nyhan syndrome.
abstract: Heteroduplex detection by hydrolink gel electrophoresis was performed to screen for small mutations in 12 Lesch-Nyhan syndrome families with characterised molecular pathology which included nine point mutations, two small deletions, and a 1-bp insertion. This modified protocol for heteroduplex detection by hydrolink gel electrophoresis detected all 12 of these mutations and was utilised to rapidly determine the carrier status of females from affected families. On the basis of these results this approach appears to be a rapid and reliable screening method for point mutations in addition to small length mutations and for carrier detection in Lesch-Nyhan syndrome.
authors.affiliation: University Department of Medical Genetics, Duncan Guthrie Institute, Glasgow, United Kingdom.
authors.forename: M
authors.initials: M
authors.lastname: Boyd
authors.forename: W G
authors.initials: WG
authors.lastname: Lanyon
authors.forename: J M
authors.initials: JM
authors.lastname: Connor
mesh_terms: D004252:DNA Mutational Analysis / Q000379:methods*; D004586:Electrophoresis; D005069:Evaluation Studies as Topic; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology / Q000235:genetics*; D008297:Male; D009692:Nucleic Acid Heteroduplexes / Q000235:genetics* / Q000302:isolation & purification; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion
chemical_list: D009692:Nucleic Acid Heteroduplexes; D007041:Hypoxanthine Phosphoribosyltransferase