title: Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis.
abstract: We present the results of a comprehensive study on the molecular basis of phenylketonuria (PKU) in Denmark. A strategy relying on PCR in combination with denaturing gradient gel electrophoresis for analyzing the coding sequence and splice site junctions of the phenylalanine hydroxylase gene allowed us to detect a molecular defect on 99% of 308 Danish PKU chromosomes. The mutational spectrum consists of 35 different mutations, including 23 missense mutations, 5 splice mutations, 4 nonsense mutations, and 3 deletions. Seventeen of these mutations have not been reported previously. The mutation detection assay presented in this report offers a simple and reliable methodological entity that can be applied to rapid diagnosis and carrier detection of phenylketonuria in any population, irrespective of the frequency and distribution of mutations.
authors.affiliation: Danish Center for Human Genome Research, John F. Kennedy Institute, Glostrup.
authors.forename: P
authors.initials: P
authors.lastname: Guldberg
authors.forename: K F
authors.initials: KF
authors.lastname: Henriksen
authors.forename: F
authors.initials: F
authors.lastname: Güttler
mesh_terms: D000483:Alleles; D001483:Base Sequence; D004252:DNA Mutational Analysis; D016208:Databases, Factual; D003718:Denmark / Q000453:epidemiology; D004591:Electrophoresis, Polyacrylamide Gel; D005787:Gene Frequency; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008969:Molecular Sequence Data; D015997:Neonatal Screening; D009691:Nucleic Acid Denaturation; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D017354:Point Mutation; D017384:Sequence Deletion
chemical_list: D010651:Phenylalanine Hydroxylase