title: Phenylalanine hydroxylase gene: silent mutation uncovers evolutionary origin of different alleles.
abstract: Analyzing a panel of 94 phenylketonuria (PKU) alleles for mutations within the phenylalanine hydroxylase (PAH) gene, we identified a G to A transition in exon 7 corresponding to nucleotide 957 in the cDNA sequence. This nucleotide substitution generates a new Alu I site (...GTGGCT...----...GTAGCT...), but does not change the encoded amino acid (GTG245----GTA245 = VAL). In our panel of patients the Alu I polymorphism is exclusively associated with haplotypes 4 (mutant or normal alleles) and 3, 16, 17, 28 (normal alleles).
authors: Institut für Humangenetik, Universität Münster, FRG.
authors: B
authors: B
authors: Dworniczak
authors: C
authors: C
authors: Aulehla-Scholz
authors: J
authors: J
authors: Horst
mesh_terms: D000483:Alleles; D005075:Biological Evolution; D004252:DNA Mutational Analysis; D005784:Gene Amplification / Q000235:genetics; D006580:Genetic Carrier Screening; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D009154:Mutation / Q000235:genetics*; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: D010651:Phenylalanine Hydroxylase