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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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| Published in: | The Lancet (British edition) 1995-04, Vol.345 (8955), p.958-959 |
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| container_end_page | 959 |
| container_issue | 8955 |
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| creator | Aono, S. Keino, H. Yamada, Y. Adachi, Y. Nanno, T. Uyama, E. Koiwai, O. Sato, H. |
| description | 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. |
| doi_str_mv | 10.1016/S0140-6736(95)90702-5 |
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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. 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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. 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| ispartof | The Lancet (British edition), 1995-04, Vol.345 (8955), p.958-959 |
| issn | 0140-6736 1474-547X |
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| 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 |
| title | Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome |
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