Phenylketonuria: detection of a frequent haplotype 4 allele mutation.
By sequence analysis of 94 phenylketonuria (PKU) alleles using polymerase chain reaction (PCR) based techniques, we identified a G to A transition in exon 5 of the human phenylalanine hydroxylase gene. This base substitution predicts an Arg158----Glu158 amino acid exchange and is strongly associated with the mutant haplotype 4 PKU allele.
Dworniczak
B
B
Institut für Humangenetik der Universität, Münster, Federal Republic of Germany.
Aulehla-Scholz
C
C
Horst
J
J
D000483:Alleles; D001483:Base Sequence; D005091:Exons; D006580:Genetic Carrier Screening; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D015345:Oligonucleotide Probes; D010661:Phenylketonurias / Q000235:genetics*; D016133:Polymerase Chain Reaction
D015345:Oligonucleotide Probes