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

Abstract:

: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.

journal_name

Nature

journal_title

Nature

authors

Woo SL,Lidsky AS,Güttler F,Chandra T,Robson KJ

doi

10.1038/306151a0

subject

Has Abstract

pub_date

1983-11-10 00:00:00

pages

151-5

issue

5939

eissn

0028-0836

issn

1476-4687

journal_volume

306

pub_type

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