Phenylketonuria: detection of a frequent haplotype 4 allele mutation

Hum Genet. 1989 Dec;84(1):95-6. doi: 10.1007/BF00210683.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles*
  • Base Sequence
  • Exons
  • Genetic Carrier Screening
  • Haplotypes*
  • Homozygote
  • Humans
  • Molecular Sequence Data
  • Mutation*
  • Oligonucleotide Probes
  • Phenylketonurias / genetics*
  • Polymerase Chain Reaction

Substances

  • Oligonucleotide Probes