title: Identification of sequence variation in the galactose-1-phosphate uridyl transferase gene by dHPLC.
abstract: Transferase-deficient galactosaemia is an inherited disorder of carbohydrate metabolism, caused by mutation at the galactose-1-phosphate uridyl transferase (GALT) locus. A denaturing high performance liquid chromatography (dHPLC) method was developed for variant scanning of the GALT gene. The method unequivocally identified the Duarte D1, D2, Q188R, and K285N GALT alleles and associated polymorphisms. Length polymorphism in an intronic Alu repeat was characterised and a novel Single Nucleotide Polymorphism (IVS10nt-322g-->t) associated with the D1 allele was identified.
authors.affiliation: Department of Pathology, The Children's University Hospital, Temple Street, Dublin 1, Ireland.
authors.forename: Jonathon M
authors.initials: JM
authors.lastname: Flanagan
authors.forename: Orna
authors.initials: O
authors.lastname: Tighe
authors.forename: Charles
authors.initials: C
authors.lastname: O' Neill
authors.forename: Eileen
authors.initials: E
authors.lastname: Naughten
authors.forename: Philip D
authors.initials: PD
authors.lastname: Mayne
authors.forename: David T
authors.initials: DT
authors.lastname: Croke
mesh_terms: D020087:Alu Elements; D002851:Chromatography, High Pressure Liquid; D014644:Genetic Variation; D006801:Humans; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D006599:UDPglucose-Hexose-1-Phosphate Uridylyltransferase / Q000097:blood / Q000235:genetics*
chemical_list: D006599:UDPglucose-Hexose-1-Phosphate Uridylyltransferase