The phenylketonuria G272X haplotype 7 mutation in European populations View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1993-09

AUTHORS

Jaran Apold, Hans G. Eiken, Elisabeth Svensson, Erich Kunert, Libor Kozak, Petr Cechak, Flemming Güttler, Jacques Giltay, Uta Lichter-Konecki, Dominique Melle, Jadwiga Maria Jaruzelska

ABSTRACT

We have compiled data on the frequencies of the phenylketonuria G272X mutation in European populations. This mutation occurs north of the Alps. It has a particularly high frequency in the Oslo Fjord region of Norway with the adjacent Bohuslän region of Sweden. An intermediate frequency was noted in a separate area, the eastern part of Germany with the adjacent western part of Czechoslovakia. The G272X mutation was associated with phenylalanine hydroxylase haplotype 7, except for one case with haplotype 3. Genealogical studies going back eight to nine generations revealed no common source for this mutation, but there was some geographical convergence to the Bohuslän region. These findings suggest a single origin for this mutation, with at least one founding population in south-eastern Norway/adjacent Sweden. More... »

PAGES

107-109

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf00219674

DOI

http://dx.doi.org/10.1007/bf00219674

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1051649184

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/8370573


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