Direct detection of a major mutation responsible for phenylketonuria in the population of the Federal Republic of Germany.
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.
Lichter-Konecki
U
U
Universitäts-Kinderklinik, Heidelberg 1, Federal Republic of Germany.
Schlotter
M
M
Trefz
F K
FK
Konecki
D S
DS
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*
D010651:Phenylalanine Hydroxylase; D004259:DNA-Directed DNA Polymerase