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

doi:10.1038/306151a0

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Article

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

Nature - 1 Jan 2000

Woo S L, Lidsky A S, Güttler F, Chandra T, Robson K J

Abstract excerpt

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 classic...

Topics

Alleles
Chromosome Deletion
DNA Restriction Enzymes
Genes
Genetic Carrier Screening
Humans
Pedigree
Phenylalanine Hydroxylase
Phenylketonurias
Polymorphism, Genetic
Prenatal Diagnosis

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