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Frequency of Galactose-1-phosphate Uridyl Transferase Gene Mutations in Healthy Population of Croatia

Karmela Barišić   ORCID icon orcid.org/0000-0001-9666-5514 ; Faculty of Pharmacy and Biochemistry, University of Zagreb, Zagreb, Croatia
Lada Rumora ; Faculty of Pharmacy and Biochemistry, University of Zagreb, Zagreb, Croatia
Marija Grdić ; Faculty of Pharmacy and Biochemistry, University of Zagreb, Zagreb, Croatia
Dubravka Juretić ; Faculty of Pharmacy and Biochemistry, University of Zagreb, Zagreb, Croatia

Puni tekst: engleski, pdf (95 KB) str. 125-130 preuzimanja: 857* citiraj
APA 6th Edition
Barišić, K., Rumora, L., Grdić, M. i Juretić, D. (2008). Frequency of Galactose-1-phosphate Uridyl Transferase Gene Mutations in Healthy Population of Croatia. Croatica Chemica Acta, 81 (1), 125-130. Preuzeto s https://hrcak.srce.hr/23432
MLA 8th Edition
Barišić, Karmela, et al. "Frequency of Galactose-1-phosphate Uridyl Transferase Gene Mutations in Healthy Population of Croatia." Croatica Chemica Acta, vol. 81, br. 1, 2008, str. 125-130. https://hrcak.srce.hr/23432. Citirano 16.09.2019.
Chicago 17th Edition
Barišić, Karmela, Lada Rumora, Marija Grdić i Dubravka Juretić. "Frequency of Galactose-1-phosphate Uridyl Transferase Gene Mutations in Healthy Population of Croatia." Croatica Chemica Acta 81, br. 1 (2008): 125-130. https://hrcak.srce.hr/23432
Harvard
Barišić, K., et al. (2008). 'Frequency of Galactose-1-phosphate Uridyl Transferase Gene Mutations in Healthy Population of Croatia', Croatica Chemica Acta, 81(1), str. 125-130. Preuzeto s: https://hrcak.srce.hr/23432 (Datum pristupa: 16.09.2019.)
Vancouver
Barišić K, Rumora L, Grdić M, Juretić D. Frequency of Galactose-1-phosphate Uridyl Transferase Gene Mutations in Healthy Population of Croatia. Croatica Chemica Acta [Internet]. 2008 [pristupljeno 16.09.2019.];81(1):125-130. Dostupno na: https://hrcak.srce.hr/23432
IEEE
K. Barišić, L. Rumora, M. Grdić i D. Juretić, "Frequency of Galactose-1-phosphate Uridyl Transferase Gene Mutations in Healthy Population of Croatia", Croatica Chemica Acta, vol.81, br. 1, str. 125-130, 2008. [Online]. Dostupno na: https://hrcak.srce.hr/23432. [Citirano: 16.09.2019.]

Sažetak
Galactosemia is a human disease caused by deficient activity of each one of the three enzymes involved in galactose metabolism, galactokinase (GALK), galactose-1-phosphate uridyl transferase (GALT) and UDP-galactose-4-epimerase (GALE). Absence or deficiency of GALT activity results in classical galactosemia. This disorder exhibits allelic heterogeneity in different populations and ethnic groups. The aim of this study was to search for galactosemia mutations Q188R, N314D, and K285N in healthy population of Croatia. DNA samples from 221 subjects were analyzed by the polymerase chain reaction, followed by digestion with restriction endonucleases (PCR-RFLP procedure). Allele frequencies for Q188R, N314D, and K285N were found to be 0.2 %, 7.5 % and 0 %, respectively, and correlate well with those published for most other healthy Caucasian populations.

Ključne riječi
galactosemia; galactose-1-phosphate uridyl; transferase (GALT); Q188R; K285N; N314D; IVS5-24 G>A

Hrčak ID: 23432

URI
https://hrcak.srce.hr/23432

Posjeta: 1.062 *