The phenylketonuria G272X haplotype 7 mutation in European populations |
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| 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 |
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| Institution: | (1) Department of Medical Genetics, Haukeland University Hospital, N-5021 Bergen, Norway;(2) Department of Clinical Chemistry I, Huddinge University Hospital, S-14186 Huddinge, Sweden;(3) Abteilung für Humangenetik, Universitäts-Kinderklinik, O-7039 Leipzig, Germany;(4) Department of Biochemical and Molecular Genetics, Pediatric Research Institute,  S-66262 Brno, Czechoslovakia;(5) Department of Clinical Chemistry and Biochemistry, Charles University, S-12000 Praha, Czechoslovakia;(6) Department of Inherited Metabolic Disease, John F. Kennedy Institute, DK-2600 Glostrup, Denmark;(7) Klinisch Genetisch Centrum Utrecht, 3501 Utrecht, The Netherlands;(8) Universitäts-Kinderklinik, D-69120 Heidelberg, Germany;(9) Unité de Recherches sur les Handicaps de l'Enfant, Hôpital des Enfants Malades, F-75743 Paris, France;(10) Institute of Human Genetics, Polish Academy of Sciences, PL-60479 Poznan, Poland |
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| 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. |
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