The phenylketonuria G272X haplotype 7 mutation in European populations
| Autor: | Libor Kozak, Jaran Apold, Hans Geir Eiken, Elisabeth Svensson, Uta Lichter-Konecki, Petr Cechak, Flemming Güttler, Jadwiga Jaruzelska, Erich Kunert, Jacques Giltay, D. Melle |
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| Rok vydání: | 1993 |
| Předmět: |
Genetics
Sweden education.field_of_study Phenylalanine hydroxylase biology Norway Population Haplotype Population genetics European population Geographic distribution Europe Gene Frequency Haplotypes Evolutionary biology Phenylketonurias Mutation (genetic algorithm) Mutation biology.protein Humans Metabolic disease education Genetics (clinical) |
| Zdroj: | Human genetics. 92(2) |
| ISSN: | 0340-6717 |
| Popis: | 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 Bohuslan 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 Bohuslan region. These findings suggest a single origin for this mutation, with at least one founding population in south-eastern Norway/adjacent Sweden. |
| Databáze: | OpenAIRE |
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