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Volumn 51, Issue 4, 2009, Pages 488-493

Homozygous variant of UGT1A1 gene mutation and severe neonatal hyperbilirubinemia

Author keywords

Severe hyperbilirubinemia; Severe neonatal hyperbilirubinemia; UGT1A1 gene mutation

Indexed keywords

BILIRUBIN; GLUCOSE 6 PHOSPHATE DEHYDROGENASE; GLUCURONOSYLTRANSFERASE 1A1; NUCLEOTIDE;

EID: 68349129959     PISSN: 13288067     EISSN: 1442200X     Source Type: Journal    
DOI: 10.1111/j.1442-200X.2008.02798.x     Document Type: Article
Times cited : (14)

References (27)
  • 1
    • 34147092017 scopus 로고    scopus 로고
    • Preliminary report: A survey on severe neonatal jaundice cases admitted to selected hospitals in Malaysia. In: Proceeding of the National Perinatal Health Conference, 1999
    • Selvaraju S. Preliminary report: A survey on severe neonatal jaundice cases admitted to selected hospitals in Malaysia. In: Proceeding of the National Perinatal Health Conference, 1999. Ministry of Health of Malaysia, Kuala Lumpur, 1999 70 79.
    • (1999) Ministry of Health of Malaysia, Kuala Lumpur , pp. 70-79
    • Selvaraju, S.1
  • 2
    • 0028904620 scopus 로고
    • Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome
    • Aono S, Adachi Y, Uyama E et al. Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome. Lancet 1995 345 : 958 9.
    • (1995) Lancet , vol.345 , pp. 958-9
    • Aono, S.1    Adachi, Y.2    Uyama, E.3
  • 3
    • 0033510908 scopus 로고    scopus 로고
    • Gilbert's syndrome is a contributory factor in prolonged unconjugated hyperbilirubinemia of the newborn
    • Monaghan G, McLellan A, McGeehan A et al. Gilbert's syndrome is a contributory factor in prolonged unconjugated hyperbilirubinemia of the newborn. J. Pediatr. 1999 134 : 441 6.
    • (1999) J. Pediatr. , vol.134 , pp. 441-6
    • Monaghan, G.1    McLellan, A.2    McGeehan, A.3
  • 4
    • 0030691028 scopus 로고    scopus 로고
    • Gilbert syndrome and glucose-6-phosphate dehydrogenase deficiency: A dose dependent genetic interaction crucial to neonatal hyperbilirubinemia
    • Kaplan M, Renbaum P, Ephrat L, Hammerman C, Lahad A, Beutler E. Gilbert syndrome and glucose-6-phosphate dehydrogenase deficiency: A dose dependent genetic interaction crucial to neonatal hyperbilirubinemia. Proc. Natl Acad. Sci. USA 1997 94 : 12 128 32.
    • (1997) Proc. Natl Acad. Sci. USA , vol.94 , Issue.12 , pp. 128-32
    • Kaplan, M.1    Renbaum, P.2    Ephrat, L.3    Hammerman, C.4    Lahad, A.5    Beutler, E.6
  • 5
    • 0033001454 scopus 로고    scopus 로고
    • Association of neonatal hyperbilirubinemia with bilirubin UDP-glucuronosyltransferase polymorphism
    • Maruo Y, Nishizawa K, Sato H, Doida Y, Shimada M. Association of neonatal hyperbilirubinemia with bilirubin UDP-glucuronosyltransferase polymorphism. Pediatrics 1999 103 : 1224 7.
    • (1999) Pediatrics , vol.103 , pp. 1224-7
    • Maruo, Y.1    Nishizawa, K.2    Sato, H.3    Doida, Y.4    Shimada, M.5
  • 6
    • 0036787116 scopus 로고    scopus 로고
    • Relationship between bilirubin UDP-glucuronosyl transferase 1A1 gene and neonatal hyperbilirubinemia
    • Huang CS, Chang PF, Huang MJ, Chen ES, Hung KL, Tsou KI. Relationship between bilirubin UDP-glucuronosyl transferase 1A1 gene and neonatal hyperbilirubinemia. Pediatr. Res. 2002 52 : 601 5.
    • (2002) Pediatr. Res. , vol.52 , pp. 601-5
    • Huang, C.S.1    Chang, P.F.2    Huang, M.J.3    Chen, E.S.4    Hung, K.L.5    Tsou, K.I.6
  • 7
    • 0033816138 scopus 로고    scopus 로고
    • Variations of the bilirubin uridine-diphosphoglucuronosyl transferase 1A1 gene in healthy Taiwanese
    • Huang CS, Luo G, Huang MJ, Yu SC, Yang SS. Variations of the bilirubin uridine-diphosphoglucuronosyl transferase 1A1 gene in healthy Taiwanese. Pharmacogenetics 2000 10 : 539 44.
    • (2000) Pharmacogenetics , vol.10 , pp. 539-44
    • Huang, C.S.1    Luo, G.2    Huang, M.J.3    Yu, S.C.4    Yang, S.S.5
  • 9
    • 0036755374 scopus 로고    scopus 로고
    • Single nucleotide polymorphism detection: Allelic discrimination using TaqMan
    • McGuingan F, Ralston SH. Single nucleotide polymorphism detection: Allelic discrimination using TaqMan. Psychiatr. Genet. 2002 12 : 133 6.
    • (2002) Psychiatr. Genet. , vol.12 , pp. 133-6
    • McGuingan, F.1    Ralston, S.H.2
  • 11
    • 0003791868 scopus 로고
    • Colowick, S.P. Kaplan, N.O. eds). Academic Press. New York
    • Colowick SP, Kaplan NO eds). Methods in Enzymology 1. Academic Press, New York, 1955.
    • (1955) Methods in Enzymology 1.
  • 12
    • 34249309910 scopus 로고    scopus 로고
    • Rapid detection of the UGT1A1 single nucleotide polymorphism G211A using real-time PCR with Taqman minor groove bench probes
    • Wong FL, Wang MK, Boo NY, Hamidah NH, Ainoon BO. Rapid detection of the UGT1A1 single nucleotide polymorphism G211A using real-time PCR with Taqman minor groove bench probes. J. Clin. Lab. Anal. 2007 21 : 167 72.
    • (2007) J. Clin. Lab. Anal. , vol.21 , pp. 167-72
    • Wong, F.L.1    Wang, M.K.2    Boo, N.Y.3    Hamidah, N.H.4    Ainoon, B.O.5
  • 13
    • 0027050035 scopus 로고
    • Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency
    • Yamada Y, Goto H, Suzumori K, Adachi R, Ogasawara N. Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency. Hum. Genet. 1992 90 : 379 84.
    • (1992) Hum. Genet. , vol.90 , pp. 379-84
    • Yamada, Y.1    Goto, H.2    Suzumori, K.3    Adachi, R.4    Ogasawara, N.5
  • 14
    • 1842607549 scopus 로고    scopus 로고
    • Rapid detection of the factor v Leiden mutation by real time PCR with Taqman minor groove binder probes
    • Sodi R, Dam S, Stott A. Rapid detection of the factor V Leiden mutation by real time PCR with Taqman minor groove binder probes. Clin. Chem. 2004 50 : 787 9.
    • (2004) Clin. Chem. , vol.50 , pp. 787-9
    • Sodi, R.1    Dam, S.2    Stott, A.3
  • 15
    • 0033826469 scopus 로고    scopus 로고
    • Factor v Leiden genotyping using real-time fluorescent polymerase chain reaction
    • Sevall JS. Factor V Leiden genotyping using real-time fluorescent polymerase chain reaction. Mol. Cell Probes 2000 14 : 249 53.
    • (2000) Mol. Cell Probes , vol.14 , pp. 249-53
    • Sevall, J.S.1
  • 16
  • 17
    • 0036943127 scopus 로고    scopus 로고
    • Gly 71 Arg mutation of the bilirubin UDP-glucoronosyl transferase 1A1 gene is associated with neonatal hyperbilirubinemia in the Japanese population
    • Yamamoto A, Nishio H, Waku S et al. Gly 71 Arg mutation of the bilirubin UDP-glucoronosyl transferase 1A1 gene is associated with neonatal hyperbilirubinemia in the Japanese population. Kobe. J. Med. Sci. 2002 48 : 73 7.
    • (2002) Kobe. J. Med. Sci. , vol.48 , pp. 73-7
    • Yamamoto, A.1    Nishio, H.2    Waku, S.3
  • 19
    • 0031864410 scopus 로고    scopus 로고
    • Contribution of two missense mutations (G71R and Y486D) of the bilirubin UDP glycosyltransferase (UGT1A1) gene to phenotypes of Gilbert's syndrome and Crigler-Najjar syndrome type II
    • Yamamoto K, Sato H, Fujiyama Y, Doida Y, Bamba T. Contribution of two missense mutations (G71R and Y486D) of the bilirubin UDP glycosyltransferase (UGT1A1) gene to phenotypes of Gilbert's syndrome and Crigler-Najjar syndrome type II. Biochim. Biophys. Acta 1998 1406 : 267 73.
    • (1998) Biochim. Biophys. Acta , vol.1406 , pp. 267-73
    • Yamamoto, K.1    Sato, H.2    Fujiyama, Y.3    Doida, Y.4    Bamba, T.5
  • 20
    • 0018574014 scopus 로고
    • Postnatal development of uridine diphosphate glucuronyltransferase activity towards bilirubin and 2-aminophenol in human liver
    • Onishi S, Kawade N, Itoh S, Isobe K, Sugiyama S. Postnatal development of uridine diphosphate glucuronyltransferase activity towards bilirubin and 2-aminophenol in human liver. Biochem. J. 1979 184 : 705 7.
    • (1979) Biochem. J. , vol.184 , pp. 705-7
    • Onishi, S.1    Kawade, N.2    Itoh, S.3    Isobe, K.4    Sugiyama, S.5
  • 21
    • 0019860388 scopus 로고
    • The prenatal and postnatal development of UDP-glucuronyltransferase activity towards bilirubin and the effect of premature birth on this activity in the human liver
    • Kawade N, Onishi S. The prenatal and postnatal development of UDP-glucuronyltransferase activity towards bilirubin and the effect of premature birth on this activity in the human liver. Biochem. J. 1981 196 : 257 60.
    • (1981) Biochem. J. , vol.196 , pp. 257-60
    • Kawade, N.1    Onishi, S.2
  • 22
    • 0022577995 scopus 로고
    • Breast milk jaundice in the newborn. A real entity
    • Shneider AP II. Breast milk jaundice in the newborn. A real entity. JAMA. 1986 255 : 3270 74.
    • (1986) JAMA. , vol.255 , pp. 3270-74
    • Shneider, II.A.P.1
  • 23
    • 0023093334 scopus 로고
    • Breastfeeding and human milk: Their association with jaundice in the neonate
    • Auerbach KG, Gartner LM. Breastfeeding and human milk: Their association with jaundice in the neonate. Clin. Perinatol. 1987 14 : 89 107.
    • (1987) Clin. Perinatol. , vol.14 , pp. 89-107
    • Auerbach, K.G.1    Gartner, L.M.2
  • 24
    • 0035105754 scopus 로고    scopus 로고
    • Differences in transcutaneous bilirubin readings in Japanese term infants according to feeding method
    • Itoh S, Kondo M, Kusaka T, Isobe K, Onishi S. Differences in transcutaneous bilirubin readings in Japanese term infants according to feeding method. Pediatr. Int. 2001 43 : 12 15.
    • (2001) Pediatr. Int. , vol.43 , pp. 12-15
    • Itoh, S.1    Kondo, M.2    Kusaka, T.3    Isobe, K.4    Onishi, S.5
  • 25
    • 0022601836 scopus 로고
    • Beta-Glucuronidase and hyperbilirubinaemia in breast-fed and formula-fed babies
    • Gourley GR, Arend RA. beta-Glucuronidase and hyperbilirubinaemia in breast-fed and formula-fed babies. Lancet 1986 1 : 644 6.
    • (1986) Lancet , vol.1 , pp. 644-6
    • Gourley, G.R.1    Arend, R.A.2
  • 26
    • 0022242644 scopus 로고
    • Fecal bilirubin excretion and serum bilirubin concentrations in breast-fed and bottle-fed infants
    • de-Carvalho M, Robertson S, Klaus MH. Fecal bilirubin excretion and serum bilirubin concentrations in breast-fed and bottle-fed infants. J. Pediatr. 1985 107 : 786 90.
    • (1985) J. Pediatr. , vol.107 , pp. 786-90
    • De-Carvalho, M.1    Robertson, S.2    Klaus, M.H.3
  • 27
    • 0036305499 scopus 로고    scopus 로고
    • Glucose-6-phosphate dehydrogenase deficiency, the UDP-glucoronosyl transferase 1A1 gene, and neonatal hyperbilirubinemia
    • Huang CS, Chang PF, Huang MJ, Chen ES, Chen WC. Glucose-6-phosphate dehydrogenase deficiency, the UDP-glucoronosyl transferase 1A1 gene, and neonatal hyperbilirubinemia. Gastroenterology 2002 123 : 127 33.
    • (2002) Gastroenterology , vol.123 , pp. 127-33
    • Huang, C.S.1    Chang, P.F.2    Huang, M.J.3    Chen, E.S.4    Chen, W.C.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.