title: Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome.
abstract: Gilbert's and Crigler-Najjar syndromes are characterised by unconjugated hyperbilirubinaemia due to complete and partial absence of bilirubin UDP-glucuronosyltransferase (UGT). Nucleotide sequences of the genes for bilirubin UGT were analysed in six patients with Gilbert's syndrome. All patients had a missense mutation caused by a single nucleotide substitution and the mutations were heterozygous. In addition, relatives of patients with Crigler-Najjar syndrome types I and II, and of those with Gilbert's syndrome were analysed. All ten relatives with mild hyperbilirubinaemia were heterozygotes with respect to each defective allele. These results suggest that Gilbert's syndrome is inherited as a dominant trait.
authors.affiliation: Department of Perinatology, Institute of Developmental Research, Aichi, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Aono
authors.forename: Y
authors.initials: Y
authors.lastname: Adachi
authors.forename: E
authors.initials: E
authors.lastname: Uyama
authors.forename: Y
authors.initials: Y
authors.lastname: Yamada
authors.forename: H
authors.initials: H
authors.lastname: Keino
authors.forename: T
authors.initials: T
authors.lastname: Nanno
authors.forename: O
authors.initials: O
authors.lastname: Koiwai
authors.forename: H
authors.initials: H
authors.lastname: Sato
mesh_terms: D000293:Adolescent; D000328:Adult; D003414:Crigler-Najjar Syndrome / Q000201:enzymology / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D005878:Gilbert Disease / Q000201:enzymology / Q000235:genetics*; D014453:Glucuronosyltransferase / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D017354:Point Mutation
chemical_list: C019787:bilirubin glucuronoside glucuronosyltransferase; D014453:Glucuronosyltransferase