Higher frequency of the galactose-1-phosphate uridyl transferase gene K285N mutation in the Slovenian population.

OBJECTIVES: To analyze a healthy Slovenian population for the frequency of the classical galactosemia allele K285N.

DESIGN AND METHODS: DNA was analyzed by means of polymerase chain reaction and restriction fragment length polymorphism.

RESULTS: The allele frequency of the K285N mutation in Slovenian population is 0.29%.

CONCLUSIONS: The allele frequency of the K285N mutation in Slovenian population is higher than in other Caucasian populations. K285N is one of the most frequent classical galactosemia mutations in the Slovenian population.