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|Título: ||Analysis of the UDP-glucuronosyltransferase gene in Portuguese patients with a clinical diagnosis of Gilbert and Crigler–Najjar syndromes|
|Autor: ||Costa, Elísio|
|Palavras-chave: ||Gilbert syndrome|
|Issue Date: ||2006|
|Citação: ||Costa, Elísio; Vieira, Emília; Martins, Marcia; Saraiva, Jorge; Cancela, Eugénia; Costa, Miguel; Bauerle, Roswitha; Freitas, Teresa; Carvalho, João; Santos-Silva, Ermelinda; Barbot, José; Santos, Rosário (2006) - Analysis of the UDP-glucuronosyltransferase gene in Portuguese patients with a clinical diagnosis of Gilbert and Crigler–Najjar syndromes. Blood Cells, Molecules, and Diseases. ISSN 1079-9796. 36:1, p. 91-97|
|Resumo: ||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.|
|Versão do Editor: ||http://www.sciencedirect.com/science/journal/10799796|
|Appears in Collections:||DTDT - Artigos em Revistas Indexados ao ISI|
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