Document Detail


The expression of uridine diphosphate glucuronosyltransferase gene is a major determinant of bilirubin level in heterozygous beta-thalassaemia and in glucose-6-phosphate dehydrogenase deficiency.
MedLine Citation:
PMID:  9375769     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We evaluated the effect of Gilbert's syndrome, the most common defect of bilirubin conjugation, on the bilirubin levels of subjects with inherited haematological disorders which cause increased bilirubin production. 57 patients heterozygous for beta-thalassaemia, 21 with G6PD deficiency and 44 controls were examined by typing the TATA-box in the promoter of the gene uridine diphosphate glucuronosyltransferase 1A. Nearly 80% of patients with increased bilirubin levels were heterozygous or homozygous for the UGT1A TA(7) variant associated with Gilbert's syndrome. These findings indicate that Gilbert's syndrome accounts for a large proportion of the variability of bilirubin levels in beta-thalassaemia and G6PD deficiency.
Authors:
M Sampietro; L Lupica; L Perrero; A Comino; F Martinez di Montemuros; M D Cappellini; G Fiorelli
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  British journal of haematology     Volume:  99     ISSN:  0007-1048     ISO Abbreviation:  Br. J. Haematol.     Publication Date:  1997 Nov 
Date Detail:
Created Date:  1997-12-23     Completed Date:  1997-12-23     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0372544     Medline TA:  Br J Haematol     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  437-9     Citation Subset:  IM    
Affiliation:
Istituto di Medicina Interna e Fisiopatologia Medica, Università di Milano, IRCCS Ospedale Maggiore Policlinico, Italy.
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MeSH Terms
Descriptor/Qualifier:
Gene Expression
Gilbert Disease / genetics*
Glucosephosphate Dehydrogenase Deficiency / genetics*
Glucuronosyltransferase / genetics*
Heterozygote
Humans
Hyperbilirubinemia / genetics*
beta-Thalassemia / genetics*
Chemical
Reg. No./Substance:
EC 2.4.1.17/Glucuronosyltransferase

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


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