Neonatal hyperbilirubinemia and mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene: a common missense mutation among Japanese, Koreans and Chinese

Biochem Mol Biol Int. 1998 Sep;46(1):21-6. doi: 10.1080/15216549800203512.


We analyzed the bilirubin uridine diphosphate-glucuronosyltransferase (B-UGT) gene in 42 Japanese newborns with hyperbilirubinemia and determined that 21 infants were heterozygous while 3 was homozygous for Gly71Arg. Allele frequency of Gly71Arg was 0.32 in newborns with hyperbilirubinemia, which was significantly higher than 0.13 in healthy Japanese controls. This mutant allele is also prevalent among Korean and Chinese healthy controls with a frequency of 0.23 in both populations. However, this mutation was not detected in 50 healthy German controls. These data suggest that the high frequency of the Gly71Arg mutation of the B-UGT gene is associated with high incidence of neonatal hyperbilirubinemia in Japanese, Korean and Chinese populations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Asian People / genetics*
  • China
  • Gene Frequency
  • Glucuronosyltransferase / genetics*
  • Heterozygote
  • Homozygote
  • Humans
  • Hyperbilirubinemia / enzymology
  • Hyperbilirubinemia / genetics*
  • Infant, Newborn
  • Japan
  • Korea
  • Mutation, Missense*
  • Polymerase Chain Reaction
  • TATA Box


  • bilirubin glucuronoside glucuronosyltransferase
  • Glucuronosyltransferase