Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
권호 표지

Polymorphism of UDP-glucuronosyltransferase Gene(UGT1A1) ofNeonatal Hyperbilirubinemia in Korea

한국 신생아 황달에서 UDP-Glucuronosyltransferase유전자(UGT1A1)의 다형성에 관한 연구

Hong, Gi-Ung;Gang, Hun;Kim, Il-Su;Kim, Ji-Suk;Kim, Eun-Ryeong;Lee, Hui-Je;Kim, Seong-U;Jeong, Ju-Ho
홍기웅;강훈;김일수;김지숙;김은령;이희제;김성우;정주호

  • Published : 20040000
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Abstract

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. Methods: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. Results: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). Conclusion: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. (Korean J Pediatr 2004;47:18-23)

Keywords

References

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