Higher frequency of the galactose-1-phosphate uridyl transferase gene K285N mutation in the Slovenian population.
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.
Lukac-Bajalo
Jana
J
University of Ljubljana, Faculty of Pharmacy, Askerceva cesta 7, SI-1000 Ljubljana, Slovenia. jana.bajalo@ffa.uni-lj.si
Kuzelicki
Natasa Karas
NK
Zitnik
Irena Prodan
IP
Mencej
Simona
S
Battelino
Tadej
T
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*
D005694:UTP-Hexose-1-Phosphate Uridylyltransferase