Document Detail


Rapid UGT1A1 (TA)(n) genotyping by high resolution melting curve analysis for Gilbert's syndrome diagnosis.
MedLine Citation:
PMID:  19932091     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND: The basis of Gilbert's syndrome is a 70% reduction in bilirubin glucuronidation which, in the Caucasian population, is the result of a homozygous TA insertion into the promoter region of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene (UGT1A128 allele). In addition, homozygous subjects for UGT1A128 genotype may suffer from severe irinotecan toxicity or jaundice during treatment with the protease inhibitor atazanavir. For these reasons it is very important to perform a correct molecular diagnosis. In this study, we describe for the first time a new high resolution melting (HRM) analysis for a rapid UGT1A1 (TA)(n) genotyping.
METHODS: We screened the TA number repetitions of the TATA-box promoter region of the UGT1A1 gene in 30 patients attending the Gemelli Hospital. In order to evaluate the reliability of this technique, we compared the results obtained by HRM and sequencing.
RESULTS: Since the TA insertion modifies the derivative melting curve shape and the melting temperature (T(m)), all possible genotypes for the 6 and 7 repeat alleles were successfully identified.
CONCLUSIONS: HRM analysis for the UGT1A1 (TA)(n) genotyping is a simple, rapid, sensitive and low cost method, very useful in diagnostics.
Authors:
Angelo Minucci; Paola Concolino; Bruno Giardina; Cecilia Zuppi; Ettore Capoluongo
Publication Detail:
Type:  Journal Article     Date:  2009-11-20
Journal Detail:
Title:  Clinica chimica acta; international journal of clinical chemistry     Volume:  411     ISSN:  1873-3492     ISO Abbreviation:  Clin. Chim. Acta     Publication Date:  2010 Feb 
Date Detail:
Created Date:  2010-01-27     Completed Date:  2010-03-25     Revised Date:  2014-03-28    
Medline Journal Info:
Nlm Unique ID:  1302422     Medline TA:  Clin Chim Acta     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  246-9     Citation Subset:  IM    
Copyright Information:
Crown Copyright 2009. Published by Elsevier B.V. All rights reserved.
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MeSH Terms
Descriptor/Qualifier:
Genotype
Gilbert Disease / diagnosis*,  genetics*
Glucuronosyltransferase / genetics*
Humans
Nucleic Acid Denaturation
TATA Box / genetics
Time Factors
Transition Temperature*
Chemical
Reg. No./Substance:
EC 2.4.1.-/UGT1A1 enzyme; EC 2.4.1.17/Glucuronosyltransferase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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