The frequency of carriers of the AGUfìii mutation, the predominant mutation causing aspartylglucosaminuria in Finland,was determined in a population sample comprising 553 newborns from a delivery hospital in southern Finland, and 607 from a hospital in northern Finland. The AGU(Fin) point mutation was identified from cord blood samples using the PCR-based, solid-phase minisequencing method. Nineteen carriers of the AGU(Fin) mutation were detected, 8 (1:69) in the sample from the southern and 11 (1:55) from the northern population, respectively. The solid-phase minisequencing method proved to be rapid and convenient for the detection of the AGU(Fin) mutation, and can readily be applied in large-scale carrier screening at the population level.

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