Article
Phenylalanine hydroxylase gene: silent mutation uncovers evolutionary origin of different alleles.
Clinical genetics - 1 Oct 1990
Dworniczak B, Aulehla-Scholz C, Horst J
Abstract excerpt
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...
Topics
- Alleles
- Biological Evolution
- DNA Mutational Analysis
- Gene Amplification
- Genetic Carrier Screening
- Haplotypes
- Humans
- Mutation
- Phenylalanine Hydroxylase
- Phenylketonurias
- Polymerase Chain Reaction