Abstract | BACKGROUND: METHODS: UGT1A1 in 119 neonates born at Yamagata University Hospital, Yamagata, Japan, and 26 subjects who had undergone phototherapy due to severe hyperbilirubinemia at four other hospitals were studied. The gene frequency of -3263T > G mutation in Japanese, Korean, Chinese and German healthy adult controls was also determined. Hyperbilirubinemia was assessed with a Jaundice Meter and UGT1A1 was analyzed by sequence determination or restriction enzyme method. RESULTS: The gene frequency of the -3263T > G mutation was 0.26 in Japanese subjects and was similar to the prevalence in Korean, Chinese and German populations. However, there was no significant increase in the gene frequency of the mutation in the neonates who required phototherapy for hyperbilirubinemia compared to that in the neonates without severe hyperbilirubinemia. In addition, neonates with or without the mutation did not show a significant change in the level of bilirubin and the mutation also did not show a synergic effect with the 211G > A mutation on the level of bilirubin. CONCLUSION:
|
Authors | Masayo Kanai, Kazuki Kijima, Emi Shirahata, Ayako Sasaki, Kazuhiro Akaba, Kazuo Umetsu, Naohiro Tezuka, Hirohisa Kurachi, Shogo Aikawa, Kiyoshi Hayasaka |
Journal | Pediatrics international : official journal of the Japan Pediatric Society
(Pediatr Int)
Vol. 47
Issue 2
Pg. 137-41
(Apr 2005)
ISSN: 1328-8067 [Print] Australia |
PMID | 15771689
(Publication Type: Journal Article, Multicenter Study)
|
Chemical References |
- UGT1A1 enzyme
- Glucuronosyltransferase
- Phenobarbital
|
Topics |
- Asian People
(genetics)
- Gene Frequency
- Gilbert Disease
(genetics)
- Glucuronosyltransferase
(genetics)
- Humans
- Infant, Newborn
- Japan
- Jaundice, Neonatal
(ethnology, genetics, therapy)
- Mutation, Missense
- Open Reading Frames
(genetics)
- Phenobarbital
(pharmacology)
- Phototherapy
- Promoter Regions, Genetic
(genetics)
- Response Elements
(genetics)
- Seroepidemiologic Studies
|