Document Detail

A prevalent missense mutation in Northern Europe associated with hyperphenylalaninaemia.
MedLine Citation:
PMID:  2044609     Owner:  NLM     Status:  MEDLINE    
A missense mutation has been identified in the phenylalanine hydroxylase (PAH) gene of a Danish patient with hyperphenylalaninaemia (HPA). An A-to-G transition at the second base of codon 414 results in the substitution of Cys for Tyr in the mutant PAH protein. In in vitro expression studies, the Tyr414-to-Cys414 mutant construct produced a protein which exhibited a significant amount of normal PAH enzyme activity, which is consistent with both in vitro and in vivo measurements of PAH activity in HPA patients. Population genetic studies reveal that this mutation is present on 50% of mutant haplotype 4 chromosomes in the Danish population. Together with the previously reported codon 158 mutation, these two mutant alleles comprise over 90% of all mutant haplotype 4 chromosomes in the Northern European population. Thus, two allele-specific oligonucleotide probes can detect most mutant haplotype 4 chromosomes in Northern Europe.
Y Okano; R C Eisensmith; M Dasovich; T Wang; F Güttler; S L Woo
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  European journal of pediatrics     Volume:  150     ISSN:  0340-6199     ISO Abbreviation:  Eur. J. Pediatr.     Publication Date:  1991 Mar 
Date Detail:
Created Date:  1991-07-17     Completed Date:  1991-07-17     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  7603873     Medline TA:  Eur J Pediatr     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  347-52     Citation Subset:  IM    
Howard Hughes Medical Institute, Department of Cell Biology, Baylor College of Medicine, Houston, TX 77030.
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MeSH Terms
Chromosomes, Human, Pair 3*
Chromosomes, Human, Pair 4*
European Continental Ancestry Group / genetics
Mutation / genetics*
Phenylketonurias / genetics*
Grant Support

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