Naslov
Association of UDP Glucuronosyl Transferase Genetic Polymorphism with Gilbert Syndrome among Croatian Children

Autori
Topić, Elizabeta ; Štefanović, Mario ; Begonja, Antonija ; Žaja Franulović, Orjena ; Jurčić, Zvonko

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Abstracts of the Abstracts of the 15th IFCC- FESCC European Congress of Clinical Chemistry and Laboratory Medicine- EuroMedLab ; u: Clinical Chemistry and Laboratory Medicine 40 (2002) (S) / - , 2002, S 118-S 118

Skup
15th IFCC-FESCC European Congress of Clinical Chemistry and Laboratory Medicine- EuroMedLab

Mjesto i datum
Kyoto, Japan, 25.05.2002. - 30.05.2002

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
UDP glucuronosyl transferase ; Gilbert syndrome ; children

Sažetak
Our aim was to determine UDP glucuronosyl transferase (UGT1A1) mutant (TA)7 and wild type (TA)6 alleles distribution and compare it to total serum bilirubin (TSB) concentrations among 95 healthy controls and 117 subjects clinically diagnosed as Gilbert syndrome (GS) (both groups mean age - 14 years). For every subject we measured TSB (umol/l). Genotype distribution determined by PCR was as follows: among controls were 44% 6/6 (TSB 8.48 ; SD 2.77), 40% 6/7 (TSB 10.15 ; SD 4.62) and 16% 7/7 (TSB 22.22 ; SD 9.74) ; in GS group we found 21.4% of 6/6 (TSB 7.68 ; SD 4.24), 22% of 6/7 (TSB 15.44 ; SD 8.42), and 56% of genotype 7/7 (TSB 37.01 ; SD 21.15) respectively. Allelic frequencies for 6 and 7 alleles among controls were 64% and 36% and for GS group 33% and 68% respectively. We found no significant difference for genotype, allelic frequencies and TSB between males and females within groups. Genotype and allelic frequencies between GS and controls differed significantly: CHI(p)<0.001. TSB values for different genotypes among controls revealed significant difference: ANOVA(p)=0.001-0.050. Within GS group, TSB difference between three genotypes was also highly significant (ANOVA(p) <0.001). Our results confirmed UGT1A1 7/7 genotype association with GS and elevated TSB values.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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