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 determined that 21 infants were heterozygous while 3 was homozygous for Gly71Arg. Allele frequency of Gly71Arg was 0.32 in newborns with hyperbilirubinemia, which wa...

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Bibliographic Details
Published in:Biochemistry and molecular biology international 1998-09, Vol.46 (1), p.21-26
Main Authors: Akaba, Kazuhiro, Kimura, Toshiyuki, Sasaki, Ayako, Tanabe, Saori, Ikegami, Tohru, Hashimoto, Motoya, Umeda, Hitoshi, Yoshida, Hiroshi, Umetsu, Kazuo, Chiba, Hitoshi, Yuasa, Isao, Hayasaka, Kiyoshi
Format: Article
Language:English
Subjects:
Alleles
Asian Continental Ancestry Group - genetics
bilirubin uridine diphosphate‐glucuronosyltransferase
China
Gene Frequency
Glucuronosyltransferase - genetics
Heterozygote
Homozygote
Humans
hyperbilirubinemia
Hyperbilirubinemia - enzymology
Hyperbilirubinemia - genetics
Infant, Newborn
Japan
Korea
Mutation, Missense
Polymerase Chain Reaction
TATA Box
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Summary: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.
ISSN:1521-6543
1039-9712
1521-6551
DOI:10.1080/15216549800203512