title: Direct detection of a major mutation responsible for phenylketonuria in the population of the Federal Republic of Germany.
abstract: Forty-six individuals having phenylketonuria (PKU) alleles at the phenylalanine hydroxylase (PAH) locus were tested for the haplotype 2 PKU mutation by allele-specific hybridization following in vitro DNA amplification. Patients and carriers previously shown to have a mutant haplotype 2 PAH allele demonstrated conservation of this mutation. In vitro DNA amplification greatly facilitated this analysis and provides the possibility of population screening for 37% of the mutant German PAH alleles.
authors.affiliation: Universitäts-Kinderklinik, Heidelberg 1, Federal Republic of Germany.
authors.forename: U
authors.initials: U
authors.lastname: Lichter-Konecki
authors.forename: M
authors.initials: M
authors.lastname: Schlotter
authors.forename: F K
authors.initials: FK
authors.lastname: Trefz
authors.forename: D S
authors.initials: DS
authors.lastname: Konecki
mesh_terms: D000483:Alleles; D015139:Blotting, Southern; D004259:DNA-Directed DNA Polymerase / Q000032:analysis; D005784:Gene Amplification; D006580:Genetic Carrier Screening; D006801:Humans; D009154:Mutation; D009693:Nucleic Acid Hybridization; D010651:Phenylalanine Hydroxylase / Q000235:genetics; D010661:Phenylketonurias / Q000235:genetics*
chemical_list: D010651:Phenylalanine Hydroxylase; D004259:DNA-Directed DNA Polymerase