THE PHENYLKETONURIA G272X HAPLOTYPE-7 MUTATION IN EUROPEAN POPULATIONS

We have compiled data on the frequencies of the phenylketonuria G272X mutation in European populations. This mutation occurs north of the Al ps. It has a particularly high frequency in the Oslo Fjord region of N orway with the adjacent Bohuslan region of Sweden. An intermediate fre quency was noted in a separate area, the eastern part of Germany with the adjacent western part of Czechoslovakia. The G272X mutation was as sociated with phenylalanine hydroxylase haplotype 7, except for one ca se with haplotype 3. Genealogical studies going back eight to nine gen erations revealed no common source for this mutation, but there was so me geographical convergence to the Bohuslan region. These findings sug gest a single origin for this mutation, with at least one founding pop ulation in south-eastern Norway/adjacent Sweden.