title: Frequencies of Q188R and N314D mutations and IVS5-24g>A intron variation in the galactose-1-phosphate uridyl transferase (GALT) gene in the Slovenian population.
abstract: Numerous mutations in the galactose-1-phosphate uridyl transferase (GALT) gene have been found to impair GALT activity to different extent, causing galactosemia. This disorder exhibits considerable allelic heterogeneity in different populations and ethnic groups. The Q188R mutation accounts for 60-70% of classical galactosemia alleles in the Caucasian population. Individuals homoallelic for Q188R have a severe phenotype with complete loss of enzyme activity. Another form of GALT deficiency is Duarte galactosemia with N314D mutation associated alleles (Duarte-2). Although heterozygotes for classical galactosemia are asymptomatic at birth and Duarte galactosemia appears to be quite benign, there are some indications that these disorders can increase the risk of developing certain diseases later in life. The aim of our study was to analyze a healthy Slovenian population for the frequencies of Q188R and N314D mutations, and for the Duarte-2 indicative intronic variation IVS5-24G>A. DNA samples from 174 healthy subjects were analyzed for all three mutations by polymerase chain reaction and digestion with restriction enzymes. Allele frequencies for Q188R and N314D mutations and IVS5-24G>A intron variation were found to be 0.29%, 8.0% and 5.7%, respectively. These results correlate well with those reported for most other healthy Caucasian populations.
authors.affiliation: Department of Clinical Biochemistry, Faculty of Pharmacy, University of Ljubljana, Ljubljana, Slovenia. jana.bajalo@ffa.uni-lj.si
authors.forename: Jana
authors.initials: J
authors.lastname: Lukac-Bajalo
authors.forename: Janja
authors.initials: J
authors.lastname: Marc
authors.forename: Barbara
authors.initials: B
authors.lastname: Mlinar
authors.forename: Natasa
authors.initials: N
authors.lastname: Karas
authors.forename: Ciril
authors.initials: C
authors.lastname: Krzisnik
authors.forename: Tadej
authors.initials: T
authors.lastname: Battelino
mesh_terms: D000328:Adult; D000483:Alleles; D019943:Amino Acid Substitution; D005260:Female; D005693:Galactosemias / Q000453:epidemiology / Q000235:genetics; D005787:Gene Frequency; D005820:Genetic Testing; D014644:Genetic Variation / Q000235:genetics; D005828:Genetics, Population; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007438:Introns / Q000235:genetics*; D008297:Male; D017524:Slovenia / Q000453:epidemiology; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000235:genetics*
chemical_list: D005694:UTP-Hexose-1-Phosphate Uridylyltransferase