Jump to ContentJump to Main Navigation

Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

Editor-in-Chief: Plebani, Mario

Editorial Board Member: Gillery, Philippe / Kazmierczak, Steven / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Schlattmann, Peter / Whitfield, John B.

12 Issues per year

IMPACT FACTOR 2013: 2.955
Rank 5 out of 29 in category Medical Laboratory Technology in the 2013 Thomson Reuters Journal Citation Report/Science Edition

VolumeIssuePage

Issues

Rare TA repeats in promoter TATA box of the UDP glucuronosyltranferase (UGT1A1) gene in Croatian subjects

Nora Nikolac1 / Ana-Maria Simundic2 / Elizabeta Topic3 / Zvonko Jurcic4 / Mario Stefanovic5 / Jerka Dumic6 / Sandra Supraha Goreta7

1University Department of Chemistry, Sestre Milosrdnice University Hospital, Zagreb, Croatia

2University Department of Chemistry, Sestre Milosrdnice University Hospital, Zagreb, Croatia

3University Department of Chemistry, Sestre Milosrdnice University Hospital, Zagreb, Croatia

4Department of Pediatrics, Sestre Milosrdnice University Hospital, Zagreb, Croatia

5University Department of Chemistry, Sestre Milosrdnice University Hospital, Zagreb, Croatia

6Department of Biochemistry and Molecular Biology, Faculty of Pharmacy and Biochemistry, University of Zagreb, Zagreb, Croatia

7Department of Biochemistry and Molecular Biology, Faculty of Pharmacy and Biochemistry, University of Zagreb, Zagreb, Croatia

Corresponding author: Nora Nikolac, B.Sc., University Department of Chemistry, Sestre Milosrdnice University Hospital, Vinogradska 29, 10000 Zagreb, Croatia Phone/Fax: +385-1-3768-280,

Citation Information: Clinical Chemical Laboratory Medicine. Volume 46, Issue 2, Pages 174–178, ISSN (Online) 14374331, ISSN (Print) 14346621, DOI: 10.1515/CCLM.2008.035, February 2008

Publication History

Received:
2007-05-28
Accepted:
2007-09-11

Abstract

Background: Gilbert's syndrome is a chronic or recurrent mild unconjugated hyperbilirubinemia caused by decreased activity of UDP glucuronosyltranferase (UGT1A1). The most common cause of Gilbert's syndrome in Caucasians is homozygous variant of the A(TA)7TAA promoter polymorphism. Alleles with five or eight TA repeats have also been described, but they are very rare in Caucasian populations.

Methods: Over a 6-year period (2001–2006), 1109 subjects with suspected Gilbert's syndrome were included in this study. Genotyping of (TA)6 and (TA)7 alleles was performed using high-resolution electrophoretic separation of amplified PCR products on Spreadex EL300 gels. In seven subjects, aberrant electrophoretic patterns were observed and additionally sequenced on an ABI Prism 310 Genetic Analyzer.

Results: Genotype distributions for 1102 subjects with (TA)6 or (TA)7 alleles were as follows: 54.10%, 26.33% and 18.94% for the (TA)7/(TA)7, (TA)6/(TA)7 and (TA)6/(TA)6, respectively. Sequencing of seven samples that could not be identified as one of these alleles identified four subjects with the (TA)5/(TA)7, two with the (TA)7/(TA)8 and one with the (TA)6/(TA)8 genotype.

Conclusion: Genotyping of TA repeats in the promoter region of the UGT1A1 gene revealed the presence of rare alleles with five or eight TA repeats, with a very high frequency of the (TA)7 allele in subjects suspected of having Gilbert's syndrome.

Clin Chem Lab Med 2008;46:174–8.

Keywords: genetic polymorphism; Gilbert's syndrome; hyperbilirubinemia; neonatal jaundice

Comments (0)

Please log in or register to comment.
Users without a subscription are not able to see the full content. Please, subscribe or login to access all content.