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izvor podataka: crosbi

GALT mutations in a healthy Croatian population (CROSBI ID 740481)

Prilog sa skupa u časopisu | izvorni znanstveni rad

Ćelap, Ivana ; Rumora, Lada ; Juretić, Dubravka ; Žanić-Grubišić, Tihana ; Barišić, Karmela GALT mutations in a healthy Croatian population // The FEBS journal. 2006. str. 188-188

Podaci o odgovornosti

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

engleski

GALT mutations in a healthy Croatian population

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.

galactosemia; mutations

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Podaci o prilogu

188-188.

2006.

nije evidentirano

objavljeno

Podaci o matičnoj publikaciji

The FEBS journal

1742-464X

Podaci o skupu

Nepoznat skup

ostalo

29.02.1904-29.02.2096

Povezanost rada

Temeljne medicinske znanosti

Indeksiranost