Phenylalanine hydroxylase gene: silent mutation uncovers evolutionary origin of different alleles

Clin Genet. 1990 Oct;38(4):270-3. doi: 10.1111/j.1399-0004.1990.tb03580.x.

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).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles*
  • Biological Evolution*
  • DNA Mutational Analysis
  • Gene Amplification / genetics
  • Genetic Carrier Screening*
  • Haplotypes / genetics
  • Humans
  • Mutation / genetics*
  • Phenylalanine Hydroxylase / genetics*
  • Phenylketonurias / genetics*
  • Polymerase Chain Reaction

Substances

  • Phenylalanine Hydroxylase