title: DHPLC mutation analysis of phenylketonuria.
abstract: Denaturing high-performance liquid chromatography (DHPLC) is a sensitive and fast method for the detection of mutations which has been successfully used for mutation screening in several disease-related genes. Phenylketonuria (PKU, OMIM* 261600; McKusick 1986) is one of the most common autosomal recessive disorders in Europe. Mutations in the PAH gene mainly involve point mutations. In this study we report the successful use of DHPLC to analyse rapidly the complete coding sequence of the PAH gene in a total of 125 unrelated patients with PKU.
authors.affiliation: Institute of Human Genetics, University of Leipzig, Philipp-Rosenthal-Strasse 55, D-04103 Leipzig, Germany.
authors.forename: Saskia
authors.initials: S
authors.lastname: Bräutigam
authors.forename: Annegret
authors.initials: A
authors.lastname: Kujat
authors.forename: Peter
authors.initials: P
authors.lastname: Kirst
authors.forename: Joerg
authors.initials: J
authors.lastname: Seidel
authors.forename: H Umit
authors.initials: HU
authors.lastname: Lüleyap
authors.forename: Ursula G
authors.initials: UG
authors.lastname: Froster
mesh_terms: D001483:Base Sequence; D002851:Chromatography, High Pressure Liquid / Q000379:methods*; D004252:DNA Mutational Analysis / Q000379:methods*; D006801:Humans; D009691:Nucleic Acid Denaturation; D010661:Phenylketonurias / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D014512:Ureohydrolases / Q000235:genetics*
chemical_list: D014512:Ureohydrolases; C094419:proclavaminate amidino hydrolase