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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2020.1
- 수록면
- 281 - 283 (3page)
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초록· 키워드
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Dear Editor, Uridine diphosphate-glucuronosyltransferase 1A (UGT1A1), an enzyme encoded by the UGT1A1 gene on chromosome 2q37, is the major bilirubin-conjugating enzyme [1, 2]. Variants in the promoter and coding regions of UGT1A1 affect the enzyme activity of UGT1A1, leading to unconjugated hyperbilirubinemia disorders, including Gilbert syndrome (GS), Crigler-Najjar syndrome type I (CNI), and Crigler-Najjar syndrome type II (CNII). Variant frequencies show inter-ethnic differences [3, 4]. Reports on the spectrum of variants in Korean patients with hyperbilirubinemia are limited thus far; they are mostly based on a small number of patients evaluating a few mutational hotspots [5, 6]. We retrospectively investigated the spectrum of UGT1A1 variation in a larger study population to examine the allele distribution in Korean patients with unconjugated hyperbilirubinemia.
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참고문헌 (11)
참고문헌 신청
Mackenzie PI / 2000 / Polymorphisms in UDP glucuronosyltransferase genes : functional consequences and clinical relevance / Clin Chem Lab Med 38:889~892
Bosma PJ / 1994 / Bilirubin UDP-glucuronosyltransferase 1 is the only relevant bilirubin glucuronidating isoform in man / J Biol Chem 269:17960~17964
Beutler E / 1998 / Racial variability in the UDP-glucuronosyltransferase 1(UGT1A1)promoter : a balanced polymorphism for regulation of bilirubin metabolism / Proc Natl Acad Sci 95:8170~8174
Guillemette C / 2003 / Pharmacogenomics of human UDP-glucuronosyltransferase enzymes / Pharmacogenomics J 3:136
김상이 / 2008 / 유전자 검사로 진단된 제2형 Crigler-Najjar 증후군 1예 / Pediatric Gastroenterology, Hepatology & Nutrition 11(2):219~222
Bosma PJ / 1994 / Bilirubin UDP-glucuronosyltransferase 1 is the only relevant bilirubin glucuronidating isoform in man / J Biol Chem 269:17960~17964
Beutler E / 1998 / Racial variability in the UDP-glucuronosyltransferase 1(UGT1A1)promoter : a balanced polymorphism for regulation of bilirubin metabolism / Proc Natl Acad Sci 95:8170~8174
Guillemette C / 2003 / Pharmacogenomics of human UDP-glucuronosyltransferase enzymes / Pharmacogenomics J 3:136
김상이 / 2008 / 유전자 검사로 진단된 제2형 Crigler-Najjar 증후군 1예 / Pediatric Gastroenterology, Hepatology & Nutrition 11(2):219~222
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