Identification of a defect in the UGT1A1 gene promoter and its association with hyperbilirubinemia.

@article{Sugatani2002IdentificationOA,
  title={Identification of a defect in the UGT1A1 gene promoter and its association with hyperbilirubinemia.},
  author={Junko Sugatani and Kasumi Yamakawa and Kouich Yoshinari and Takashi Machida and Hitoshi Takagi and Masatomo Mori and Satoru Kakizaki and Tatsuya Sueyoshi and Masahiko Negishi and Masao Miwa},
  journal={Biochemical and biophysical research communications},
  year={2002},
  volume={292 2},
  pages={492-7}
}
The UDP-glucuronosyltransferase UGT1A1 plays a critical role in the detoxification of potentially neurotoxic bilirubin by conjugating it with glucuronic acid. We identified a polymorphism that results in a T to G substitution at nucleotide number -3263 of the phenobarbital-responsive enhancer module of the UGT1A1 gene, thereby significantly decreasing… CONTINUE READING