| Analysis of the UDP-glucuronosyltransferase gene in Portuguese patients with a clinical diagnosis of Gilbert and Crigler-Najjar syndromes. | |
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MedLine Citation:
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PMID: 16269258 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We describe the molecular study in a cohort of 120 Portuguese patients with the clinical diagnosis of Gilbert syndrome and in one with the diagnosis of Crigler-Najjar syndrome type II, as well as a prenatal diagnosis of Crigler-Najjar syndrome type I. Among the 120 unrelated patients with Gilbert syndrome, 110 were homozygous for the [TA]7 allele ([TA]7/[TA]7), and one patient was a compound heterozygote for two different insertions ([TA]7/[TA]8). The remaining 9 patients were heterozygous for the TA insertion ([TA]6/[TA]7). Additional studies in these 9 patients revealed heterozygosity for the c.674T>G, c.488_491dupACCT and c.923G>A mutations, in 1, 1 and 4 patients, respectively. The patient with Crigler-Najjar syndrome type II was a compound heterozygote for [TA]7 and the c.923G>A mutation. The undocumented polymorphisms c.-1126C>T and c.997-82T>C were also detected in the course of this study. Prenatal diagnosis in a family with a boy previously diagnosed as Crigler-Najjar syndrome type I and homozygosity for the c.923G>A mutation revealed that the fetus was unaffected. Homozygosity for the [TA] insertion was found to be the most frequent cause of GS in our population. Identification of further mutations in the UGT1A1 gene was also seen to contribute significantly towards diagnosis. |
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Authors:
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Elísio Costa; Emília Vieira; Marcia Martins; Jorge Saraiva; Eugénia Cancela; Miguel Costa; Roswitha Bauerle; Teresa Freitas; João R Carvalho; Ermelinda Santos-Silva; José Barbot; Rosário Dos Santos |
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Publication Detail:
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Type: Journal Article Date: 2005-11-02 |
Journal Detail:
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Title: Blood cells, molecules & diseases Volume: 36 ISSN: 1079-9796 ISO Abbreviation: Blood Cells Mol. Dis. Publication Date: 2006 Jan-Feb |
Date Detail:
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Created Date: 2006-01-13 Completed Date: 2006-05-04 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9509932 Medline TA: Blood Cells Mol Dis Country: United States |
Other Details:
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Languages: eng Pagination: 91-7 Citation Subset: IM |
Affiliation:
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Escola Superior de Saúde, Instituto Politécnico de Bragança, Avenida D. Afonso V, 5300-121 Bragança, Portugal. elisio.costa@ipb.pt |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Child Crigler-Najjar Syndrome / diagnosis, enzymology, genetics* Female Gilbert Disease / diagnosis, enzymology, genetics* Glucuronosyltransferase / genetics*, metabolism Humans Male Middle Aged Mutagenesis, Insertional Point Mutation* Polymorphism, Single Nucleotide* Portugal |
| Chemical | |
Reg. No./Substance:
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EC 2.4.1.-/bilirubin uridine-diphosphoglucuronosyl transferase 1A1; EC 2.4.1.17/Glucuronosyltransferase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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