NEONATAL HYPERBILIRUBINEMIA AND MUTATION OF THE BILIRUBIN URIDINE DIPHOSPHATE-GLUCURONOSYLTRANSFERASE GENE - A COMMON MISSENSE MUTATION AMONG JAPANESE, KOREANS AND CHINESE

We analyzed the bilirubin uridine diphosphate-glucuronosyltransferase (B-UGT) gene in 42 Japanese newborns with hyperbilirubinemia and deter mined that 21 infants were heterozygous while 3 was homozygous for Gly 71Arg. Allele frequency of Gly71Arg was 0.32 in newborns with hyperbil irubinemia, which was significantly higher than 0.13 in healthy Japane se controls. This mutant allele is also prevalent among Korean and Chi nese healthy controls with a frequency of 0.23 in both populations. Ho wever, this mutation was not detected in 50 healthy German controls. T hese data suggest that the high frequency of the Gly71Arg mutation of the B-UGT gene is associated with high incidence of neonatal hyperbili rubinemia in Japanese, Korean and Chinese populations.