| Rare TA repeats in promoter TATA box of the UDP glucuronosyltranferase (UGT1A1) gene in Croatian subjects. | |
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MedLine Citation:
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PMID: 18324905 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Nora Nikolac; Ana-Maria Simundic; Elizabeta Topic; Zvonko Jurcic; Mario Stefanovic; Jerka Dumic; Sandra Supraha Goreta |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Clinical chemistry and laboratory medicine : CCLM / FESCC Volume: 46 ISSN: 1434-6621 ISO Abbreviation: Clin. Chem. Lab. Med. Publication Date: 2008 |
Date Detail:
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Created Date: 2008-03-07 Completed Date: 2008-05-14 Revised Date: 2008-11-21 |
Medline Journal Info:
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Nlm Unique ID: 9806306 Medline TA: Clin Chem Lab Med Country: Germany |
Other Details:
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Languages: eng Pagination: 174-8 Citation Subset: IM |
Affiliation:
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University Department of Chemistry, Sestre Milosrdnice University Hospital, Zagreb, Croatia. nora.nikolac@gmail.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Base Sequence Child Cohort Studies Croatia DNA Primers Female Glucuronosyltransferase / genetics* Humans Male Promoter Regions, Genetic* Repetitive Sequences, Nucleic Acid* Retrospective Studies TATA Box* |
| Chemical | |
Reg. No./Substance:
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0/DNA Primers; EC 2.4.1.-/phenol glucuronosyltransferase; EC 2.4.1.17/Glucuronosyltransferase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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