UGT1A1(TA)n promoter polymorphism--a new case of a (TA)8 allele in Caucasians.

doi:10.1016/j.bcmd.2006.10.160

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Article

UGT1A1(TA)n promoter polymorphism--a new case of a (TA)8 allele in Caucasians.

Blood cells, molecules & diseases - 1 Jan 2000

Ostanek Barbara, Furlan Danijela, Mavec Tina, Lukac-Bajalo Jana

Abstract excerpt

Gilbert's syndrome is a mild hereditary unconjugated hyperbilirubinemia caused by mutations in the bilirubin UDP-glucuronosyltransferase gene (UGT1A1). The causative mutation in Caucasians is almost exclusively a TA dinucleotide insertion in the TATA box of the UGT1A1 promoter. Affected individuals are homozygous for the variant promoter and have 7 instead of 6 TA repeats. The aim of the present study was to...

Topics

Adult
Alleles
Base Sequence
Bilirubin
Family Health
Female
Gene Frequency
Genotype
Gilbert Disease
Glucuronosyltransferase
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Middle Aged

Molecular Epidemiology

Polymorphism, Genetic

Promoter Regions, Genetic

Slovenia

White People

Source

Open in PubMed

Identifiers

PMID: 17196409
DOI: 10.1016/j.bcmd.2006.10.160

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