Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome

Lancet. 1995 Apr 15;345(8955):958-9. doi: 10.1016/s0140-6736(95)90702-5.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Crigler-Najjar Syndrome / enzymology
  • Crigler-Najjar Syndrome / genetics
  • Female
  • Genes, Dominant
  • Gilbert Disease / enzymology
  • Gilbert Disease / genetics*
  • Glucuronosyltransferase / genetics
  • Heterozygote
  • Humans
  • Male
  • Middle Aged
  • Point Mutation


  • bilirubin glucuronoside glucuronosyltransferase
  • Glucuronosyltransferase