Human Genetics

, Volume 115, Issue 6, pp 525–526

Two linked polymorphic mutations (A(TA)7TAA and T-3279G) of UGT1A1 as the principal cause of Gilbert syndrome

Authors

    • Department of PediatricsShiga University of Medical Science
  • Carlos D′ Addario
    • Department of Pediatrics, San Carlos CentroEx-Medico Residente Hospital
  • Asami Mori
    • Department of PediatricsShiga University of Medical Science
  • Masaru Iwai
    • Department of PediatricsShiga University of Medical Science
  • Hiroko Takahashi
    • Department of PediatricsShiga University of Medical Science
  • Hiroshi Sato
    • Department of BioscienceShiga University of Medical Science
  • Yoshihiro Takeuchi
    • Department of PediatricsShiga University of Medical Science
Short Report

DOI: 10.1007/s00439-004-1183-x

Cite this article as:
Maruo, Y., D′ Addario, C., Mori, A. et al. Hum Genet (2004) 115: 525. doi:10.1007/s00439-004-1183-x

Abstract

Gilbert syndrome is a mild hereditary unconjugated hyperbilirubinemia caused by mutations in the bilirubin UDP-glucuronosyltransferase gene (UGT1A1). The mutation, A(TA)7TAA, is thought to be the sole cause of the syndrome in Caucasians, but an enhancer polymorphism (T-3279G) that lowers transcriptional activity has recently been reported. We have tested the linkage of the two mutations in 11 Caucasians and 12 Japanese patients who were homozygous for A(TA)7TAA. All 23 patients were also homozygous for T-3279G, indicating that T-3279G and A(TA)7TAA were linked. The decrease in transcription caused by both mutations together may be essential to the syndrome.

Copyright information

© Springer-Verlag 2004