Naslov
GALT mutations in a healthy Croatian population

Autori
Ćelap, Ivana ; Rumora, Lada ; Juretić, Dubravka ; Žanić-Grubišić, Tihana ; Barišić, Karmela

Izvornik
The FEBS Journal (1742-464X) 273, Supplement 1 (2006); 188-188

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, kongresno priopcenje, znanstveni

Ključne riječi
galactosemia; mutations

Sažetak
An inborn metabolic disorder, galactosemia, is caused by deficiency of galactose-1-phosphate uridyl transferase (GALT) enzyme. This disorder exhibits considerable allelic heterogenity in different populations and ethnic groups. Recently, numerous mutations of GALT gene have been identified. Two of the most common mutations among Caucasians are Q188R and K285N. Both of these mutations are characterized by complete loss of the GALT enzyme activity in homoallelic individuals. Duarte galactosemia is a form of GALT deficiency which is induced by N314D mutation. Along with the N314D mutation Duarte variant of galactosemia depends on other genetic changes in alleles, such as intronic sequence variation G1391A in intron V. Heterozygotes for Q188R, K285N and Duarte galactosemia are asymptomatic at birth, but bear higher risk for certain diseases later in life. The aim of our study was to analyze a healthy Croatian population for the frequencies of Q188R, K285N, N314D and intronic sequence variation G1391A. DNA samples from 166 healthy individuals were analysed for all four mutations by polymerase chain reaction and digestion with restriction enzymes (PCR-RFLP). Allele frequencies for Q188R, N314D, intronic sequence variation G1391A and K285N were found to be 0 %, 6.6 %, 7.2 % and 0%, respectively. The obtained results suggest that Q188R and K285N are not the most frequent mutations among the Croatian healthy population.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

POVEZANOST RADA