Impact of UGT1A1 gene variants on total bilirubin levels in Gilbert syndrome patients and in healthy subjects.

doi:10.1016/j.bcmd.2012.01.004

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Article

Impact of UGT1A1 gene variants on total bilirubin levels in Gilbert syndrome patients and in healthy subjects.

Blood cells, molecules & diseases - 15 Mar 2012

Rodrigues Carina, Vieira Emília, Santos Rosário, de Carvalho João, Santos-Silva Alice, Costa Elísio, Bronze-da-Rocha Elsa

Abstract excerpt

The Gilbert syndrome is a benign form of unconjugated hyperbilirubinemia, mainly associated with alterations in UGT1A1 gene. This work investigated the effect of UGT1A1 variants on total bilirubin levels in Gilbert patients (n=45) and healthy controls (n=161). Total bilirubin levels were determined using a colorimetric method; molecular analysis of exons 1-5 and two UGT1A1 promoter regions were performed by...

Topics

Adult
Base Sequence
Bilirubin
Female
Genotype
Gilbert Disease
Glucuronosyltransferase
Humans
Male
Middle Aged
Open Reading Frames
Polymorphism, Genetic
Promoter Regions, Genetic

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Open in PubMed

Identifiers

PMID: 22325916
DOI: 10.1016/j.bcmd.2012.01.004

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