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

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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.

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Authors and Affiliations

  1. Department of Pediatrics, Shiga University of Medical Science, Seta Tsukinowa, Otsu, Shiga, 520-2192, Japan

    Yoshihiro Maruo, Asami Mori, Masaru Iwai, Hiroko Takahashi & Yoshihiro Takeuchi

  2. Department of Bioscience, Shiga University of Medical Science, Otsu, Shiga, 520-2192, Japan

    Hiroshi Sato

  3. Department of Pediatrics, San Carlos Centro, Ex-Medico Residente Hospital, Santa Fe, Argentina

    Carlos D′ Addario

Authors
  1. Yoshihiro Maruo
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  2. Carlos D′ Addario
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  3. Asami Mori
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  4. Masaru Iwai
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  5. Hiroko Takahashi
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  6. Hiroshi Sato
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  7. Yoshihiro Takeuchi
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Corresponding author

Correspondence to Yoshihiro Maruo.

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Maruo, Y., D′ Addario, C., Mori, A. et al. Two linked polymorphic mutations (A(TA)7TAA and T-3279G) of UGT1A1 as the principal cause of Gilbert syndrome. Hum Genet 115, 525–526 (2004). https://doi.org/10.1007/s00439-004-1183-x

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  • DOI: https://doi.org/10.1007/s00439-004-1183-x

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