| UDP-glucuronosyltransferase 1A1 Gene Polymorphism in Severe Neonatal Hyperbilirubinemia. |
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Je Deok Jeon, Heui Seung Jo, Seong Gyu Lee, Sung Hwan Byun, Joong Suk Yeo, Yeon Hwa Ahn, Soo Hee Chang, Se Young Kim, Jong Woon Choi |
1Department of Pediatrics, Bundang Jesaeng General Hospital, Sungnam, Korea. jo@dmc.or.kr
2Department of Laboratory Medicine, Bundang Jesaeng General Hospital, Sungnam, Korea. |
| UDP-glucuronosyltransferase 1A1 유전자 촉진자 부위의 다형성이 출생 초기의 심한 신생아 황달에 미치는 영향 |
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| Abstract |
PURPOSE
TATA box mutation/polymorphism in the promoter region of the bilirubin uridinediphosphoglucuronate glucuronosyltransferase 1A1 (UGT-1A1) gene is known to be an etiology of hyperbilirubinemia. This study examined if a TATA box mutation/polymorphism in UGT-1A1 gene promoter could be associated with the development of severe early neonatal jaundice in Korean infants.
METHODS
Thirty-nine neonatal jaundice patients and 40 controlled infants were analyzed for UGT-1A1 promoter genotypes by using DNA sequencing.
RESULTS
The homozygote for (TA)7TAA mutation was not found in this study. Comparison of the prevalence of UGT-1A1 promoter (TA)7TAA heterozygotes revealed no difference between the group with jaundice and the controlled group (15.4% vs. 10%). The peak bilirubin level was higher and the onset of jaundice was earlier in the jaundice group with (TA)7TAA heterozygote compared to the jaundice group without (TA)7TAA heterozygote (23.2+/-1.0 mg/dL vs. 19.7+/-2.4 mg/dL, P=0.004, 5.0+/-1.5 days vs. 8.3+/-4.1 days, P= 0.057).
CONCLUSION
The results of this study showed that TATA box polymorphism in UGT-1A1 gene promoter did not increase the prevalence of severe early neonatal jaundice in Korean infants. |
| Key Words:
Uridinediphosphoglucuronate glucuronosyltransferase 1A1 (UGT-1A1) gene; Promoter; Mutation; Neonatal jaundice |
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