title: Higher frequency of the galactose-1-phosphate uridyl transferase gene K285N mutation in the Slovenian population.
abstract: OBJECTIVE
  To analyze a healthy Slovenian population for the frequency of the classical galactosemia allele K285N.
  
  
  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.
authors.affiliation: University of Ljubljana, Faculty of Pharmacy, Askerceva cesta 7, SI-1000 Ljubljana, Slovenia. jana.bajalo@ffa.uni-lj.si
authors.forename: Jana
authors.initials: J
authors.lastname: Lukac-Bajalo
authors.forename: Natasa Karas
authors.initials: NK
authors.lastname: Kuzelicki
authors.forename: Irena Prodan
authors.initials: IP
authors.lastname: Zitnik
authors.forename: Simona
authors.initials: S
authors.lastname: Mencej
authors.forename: Tadej
authors.initials: T
authors.lastname: Battelino
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D005260:Female; D005693:Galactosemias / Q000235:genetics; D005787:Gene Frequency; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D017524:Slovenia; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000235:genetics*
chemical_list: D005694:UTP-Hexose-1-Phosphate Uridylyltransferase