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Korean Journal of Pediatrics 2004;47(1):18-23.
Polymorphism of UDP-glucuronosyltransferase Gene(UGT1A1) of Neonatal Hyperbilirubinemia in Korea
Ki Woong Hong1, Hoon Kang1, Soo Kim1, Ji Sook Kim1, Eun Ryoung Kim1, Hee Jae Lee2, Sheng-Yu Jin2, Joo Ho Chung2
1Department of Pediatrics, Sung-Ae General Hospital, Seoul, Korea
2Department of Pharmacology, Kyunghee University College of Medicine, Seoul, Korea
한국 신생아 황달에서 UDP-Glucuronosyltransferase 유전자(UGT1A1)의 다형성에 관한 연구
홍기웅1, 강훈1, 김일수1, 김지숙1, 김은령1, 이희제2, 김성우2, 정주호2
1성애병원 소아과
2경희대학교 의과대학 약리학교실
Correspondence:  Eun Ryoung Kim,
Email: NICU@chollian.net
Purpose : The incidence of neonatal hyperbilirubinemia is twice as high in East Asians as in whites and its metabolic basis has not been clearly explained. Recently, UDP-glucuronosyltransferase gene (UGT1A1) mutation was found to be a risk factor of neonatal hyperbilirubinemia in Japanese and Taiwanese Chinese. We studied whether neonatal hyperbilirubinemia is associated with mutation of UGT1A1, which is a key enzyme of bilirubin catabolism, in Korean.
: The genomic DNA was isolated from 45 Korean full term neonates who had hyperbilirubinemia(serum bilirubin >12 mg/dL) with no obvious causes, and the 64 Korean neonates of the control population. We detected a missense mutation of Gly71Arg of UGT1A1 gene by using allele- specific polymerase chain reaction. Polymorphism was confirmed by direct sequencing.
: Two of the 45 neonates with serum bilirubin above 12 mg/dL had homozygous mutation and 16 neonates had heterozygous mutation. Two of the 31 neonates with serum bilirubin above 15 mg/dL had homozygous mutation and 13 neonates had heterozygous mutation. Thirteen of the control group had heterozygous mutation and homozygous mutation was not found. Allele frequency of Gly71Arg mutation in hyperbilirubinemia group was 0.22, which was significantly higher than 0.11 in the control group(P<0.0144).
: The missense mutation causing Gly71Arg of UGT1A1 was detected in the Korean neonatal hyperbilirubinemia. The high frequency of this missense mutation may be attributed to the high prevalence of hyperbilirubinemia in the Korean.
Key Words: UDP-glucuronosyltransferase gene(UGT1A1), Neonatal hyperbilirubinemia, Polymorphism


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