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

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 pa...

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Bibliographic Details
Published in:The Lancet (British edition) 1995-04, Vol.345 (8955), p.958-959
Main Authors: Aono, S., Keino, H., Yamada, Y., Adachi, Y., Nanno, T., Uyama, E., Koiwai, O., Sato, H.
Format: Article
Language:English
Subjects:
Adolescent
Adult
Biological and medical sciences
Crigler-Najjar Syndrome - enzymology
Crigler-Najjar Syndrome - genetics
Digestive system
Errors of metabolism
Female
Genes, Dominant
Genetics
Gilbert Disease - enzymology
Gilbert Disease - genetics
Glucuronosyltransferase - genetics
Heterozygote
Humans
Liver
Male
Medical disorders
Medical sciences
Metabolic diseases
Middle Aged
Miscellaneous hereditary metabolic disorders
Point Mutation
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Summary: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.
ISSN:0140-6736
1474-547X
DOI:10.1016/S0140-6736(95)90702-5