지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아소화기영양학회 Pediatric Gastroenterology, Hepatology & Nutrition Pediatric Gastroenterology, Hepatology & Nutrition 제17권 제1호
- 발행연도
- 2014.1
- 수록면
- 37 - 40 (4page)
이용수
초록· 키워드
오류제보하기
Purpose: Crigler-Najjar syndrome type II (CN-2) is characterized by moderate non-hemolytic unconjugated hyperbilirubinemia as a result of severe deficiency of bilirubin uridine diphosphate-glucuronosyltransferase (UGT1A1).
The study investigated the mutation spectrum of UGT1A1 gene in Korean children with CN-2.
Methods: Five Korean CN-2 patients from five unrelated families and 50 healthy controls were enrolled. All five exons and flanking introns of the UGT1A1 gene were amplified by polymerase chain reaction (PCR) and the PCR products were directly sequenced.
Results: All children initially presented with neonatal jaundice and had persistent indirect hyperbilirubinemia.
Homozygous p.Y486D was identified in all five patients. Three patients had an associated homozygous p.G71R and two a heterozygous p.G71R. The allele frequency of p.Y486D and p.G71R in healthy controls was 0 and 0.16, respectively. No significant difference in mean serum bilirubin levels was found between homozygous carriers of p.G71R and heterozygous carriers.
Conclusion: The combination of homozygous p.Y486D and homozygous or heterozygous p.G71R is identified. The p.Y486D and p.G71R can be screened for the mutation analysis of UGT1A1 in Korean CN-2 patients.
목차
등록된 정보가 없습니다.
참고문헌 (16)
참고문헌 신청
Aono S / 1995 / Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome / Lancet 345 : 958 ~ 959
Bosma PJ / 1992 / Sequence of exons and the flanking regions of human bilirubin- UDP-glucuronosyltransferase gene complex and identification of a genetic mutation in a patien
Bosma PJ / 1993 / A mutation in bilirubin uridine 5'-diphosphate-glucuronosyltransferase isoform 1 causing Crigler-Najjar syndrome type II / Gastroenterology 105 : 216 ~ 220
Bosma PJ / 1995 / The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome / N Engl J Med 333 : 1171 ~ 1175
Chou HC / 2011 / 211 G to a variation of UDP-glucuronosyl transferase 1A1 gene and neonatal breastfeeding jaundice / Pediatr Res 69 : 170 ~ 174
Bosma PJ / 1992 / Sequence of exons and the flanking regions of human bilirubin- UDP-glucuronosyltransferase gene complex and identification of a genetic mutation in a patien
Bosma PJ / 1993 / A mutation in bilirubin uridine 5'-diphosphate-glucuronosyltransferase isoform 1 causing Crigler-Najjar syndrome type II / Gastroenterology 105 : 216 ~ 220
Bosma PJ / 1995 / The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome / N Engl J Med 333 : 1171 ~ 1175
Chou HC / 2011 / 211 G to a variation of UDP-glucuronosyl transferase 1A1 gene and neonatal breastfeeding jaundice / Pediatr Res 69 : 170 ~ 174
이 논문의 저자 정보
최근 본 자료
댓글(0)
0