Human Genetics

, Volume 96, Issue 6, pp 741–743 | Cite as

Polymorphism in the 3′ untranslated region of the phenylalanine hydroxylase gene detected by enzyme mismatch cleavage: evolution of haplotypes

  • Susan J. Ramus
  • Richard G. H. Cotton
DNA Variants


A polymorphism was identified in 3′ untranslated region of the phenylalanine hydroxylase gene using the newly described mutation detection method, enzyme mismatch cleavage. This polymorphism, 1546 G → A, was linked to three mutations on several haplotype backgrounds. A group of haplotypes was identified as evolving from the one ancestral haplotype on which this base substitution occurred. The possible Celtic or Viking origin of this polymorphism is discussed.


Internal Medicine Metabolic Disease Detection Method Phenylalanine Untranslated Region 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer-Verlag 1995

Authors and Affiliations

  • Susan J. Ramus
    • 1
  • Richard G. H. Cotton
    • 1
  1. 1.Olive Miller Protein Laboratory, The Murdoch Institute, Royal Children's HospitalParkville, MelbourneAustralia

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