Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria

Nature. 1983 Nov 10-16;306(5939):151-5. doi: 10.1038/306151a0.


The human gene for the hepatic enzyme phenylalanine hydroxylase has been cloned and used to analyse the phenylalanine hydroxylase locus in the human genome. The detection of polymorphisms in this locus by several restriction enzymes has allowed feasibility studies of prenatal diagnosis of classical phenylketonuria and identification of carriers of the trait. Results indicate that these services could be provided for up to 75% of all families with phenylketonuric children in the general Caucasian population.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Chromosome Deletion
  • DNA Restriction Enzymes
  • Genes
  • Genetic Carrier Screening
  • Humans
  • Pedigree
  • Phenylalanine Hydroxylase / genetics*
  • Phenylketonurias / diagnosis*
  • Polymorphism, Genetic
  • Prenatal Diagnosis


  • Phenylalanine Hydroxylase
  • DNA Restriction Enzymes