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Volumn 46, Issue 5, 2004, Pages 565-569

Screening for G71R mutation of the UGT1A1 gene in the Javanese-Indonesian and Malay-Malaysian populations

Author keywords

G71R mutation; Indonesian; Malaysian; Neonatal jaundice; UGT1A1 gene

Indexed keywords

GLUCURONOSYLTRANSFERASE; GLUCURONOSYLTRANSFERASE 1A1; UNCLASSIFIED DRUG;

EID: 7044269611     PISSN: 13288067     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1442-200x.2004.01959.x     Document Type: Article
Times cited : (25)

References (25)
  • 4
    • 0030030762 scopus 로고    scopus 로고
    • Genetic variation in bilirubin UDP-glucuronosyl transferase gene promoter and Gilbert syndrome
    • Monaghan G, Ryan M, Seddon R, Hume R, Burchell B. Genetic variation in bilirubin UDP-glucuronosyl transferase gene promoter and Gilbert syndrome. Lancet 1996; 347: 578-81.
    • (1996) Lancet , vol.347 , pp. 578-581
    • Monaghan, G.1    Ryan, M.2    Seddon, R.3    Hume, R.4    Burchell, B.5
  • 5
    • 0031949264 scopus 로고    scopus 로고
    • Gilbert's syndrome accelerates development of neonatal jaundice
    • Bancroft JD, Kreamer B, Gourley GR. Gilbert's syndrome accelerates development of neonatal jaundice. J. Pediatr. 1998; 132:656-60.
    • (1998) J. Pediatr. , vol.132 , pp. 656-660
    • Bancroft, J.D.1    Kreamer, B.2    Gourley, G.R.3
  • 6
    • 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. 441-446
    • Monaghan, G.1    McLellan, A.2    McGeehan, A.3
  • 7
    • 0031719562 scopus 로고    scopus 로고
    • Neonatal hyperbilirubinemia and mutation of the bilirubin uridine diphosphateglucuronosyltransferase gene: A common missense mutation among Japanese, Koreans and Chinese
    • Akaba K, Kimura T, Sasaki A et al. Neonatal hyperbilirubinemia and mutation of the bilirubin uridine diphosphateglucuronosyltransferase gene: a common missense mutation among Japanese, Koreans and Chinese. Biochem. Mol. Biol. Int. 1998; 46: 21-6.
    • (1998) Biochem. Mol. Biol. Int. , vol.46 , pp. 21-26
    • Akaba, K.1    Kimura, T.2    Sasaki, A.3
  • 8
    • 6544244602 scopus 로고    scopus 로고
    • Neonatal hyperbilirubinemia and a common mutation of the bilirubin uridine diphosphate-glucuronosyltransferase in Japanese
    • Akaba K, Kimura T, Sasaki A et al. Neonatal hyperbilirubinemia and a common mutation of the bilirubin uridine diphosphate-glucuronosyltransferase in Japanese. J. Hum. Genet. 1999; 44: 22-5.
    • (1999) J. Hum. Genet. , vol.44 , pp. 22-25
    • Akaba, K.1    Kimura, T.2    Sasaki, A.3
  • 9
    • 0033001454 scopus 로고    scopus 로고
    • Association of neonatal hyperbilirubinemia with bilirubin UDP-glucuronosyltransferase polymorphism
    • Maruo Y, Nishizawa K, Sato H et al. Association of neonatal hyperbilirubinemia with bilirubin UDP-glucuronosyltransferase polymorphism. Pediatrics 1999; 103: 1224-7.
    • (1999) Pediatrics , vol.103 , pp. 1224-1227
    • Maruo, Y.1    Nishizawa, K.2    Sato, H.3
  • 10
    • 0032766238 scopus 로고    scopus 로고
    • A variant TATA box in the bilirubin UDP-glucuronosyltransferase 1 gene promoter does not contribute to neonatal jaundice in the Japanese population
    • Waku S, Takeshima Y, Nakamura H et al. A variant TATA box in the bilirubin UDP-glucuronosyltransferase 1 gene promoter does not contribute to neonatal jaundice in the Japanese population. Arch. Dis. Child Fetal Neonatal Ed. 1999;81: FI59-60.
    • (1999) Arch. Dis. Child Fetal Neonatal Ed. , vol.81
    • Waku, S.1    Takeshima, Y.2    Nakamura, H.3
  • 11
    • 0036787116 scopus 로고    scopus 로고
    • Relationship between bilirubin UDP-glucuronosyltransferase 1A1 gene and neonatal hyperbilirubinemia
    • Huang CS, Chang PF, Huang MJ et al. Relationship between bilirubin UDP-glucuronosyltransferase 1A1 gene and neonatal hyperbilirubinemia. Pediatr. Res. 2002; 52: 601-5.
    • (2002) Pediatr. Res. , vol.52 , pp. 601-605
    • Huang, C.S.1    Chang, P.F.2    Huang, M.J.3
  • 12
    • 0038351780 scopus 로고    scopus 로고
    • The global distribution of length polymorphisms of the promoters of the glucuronosyltransferase 1 gene (UGT1A1): Hematologic and evolutionary implications
    • Premawardhena A, Fisher CA, Liu YT et al. The global distribution of length polymorphisms of the promoters of the glucuronosyltransferase 1 gene (UGT1A1): hematologic and evolutionary implications. Blood Cells Mol. Dis. 2003; 31: 98-101.
    • (2003) Blood Cells Mol. Dis. , vol.31 , pp. 98-101
    • Premawardhena, A.1    Fisher, C.A.2    Liu, Y.T.3
  • 13
    • 0029015847 scopus 로고
    • Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyl transferase
    • Koiwai O, Nishizawa M, Hasada K et al. Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyl transferase. Hum. Mol. Genet. 1995;4:1183-6.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1183-1186
    • Koiwai, O.1    Nishizawa, M.2    Hasada, K.3
  • 14
    • 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 et al. 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. 267-273
    • Yamamoto, K.1    Sato, H.2    Fujiyama, Y.3
  • 15
    • 0036943127 scopus 로고    scopus 로고
    • Gly71Arg mutation of the bilirubin UDP-glucuronosyltransferase 1A1 gene is associated with neonatal hyperbilirubinemia in the Japanese population
    • Yamamoto A, Nishio H, Waku S et al. Gly71Arg mutation of the bilirubin UDP-glucuronosyltransferase 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. 73-77
    • Yamamoto, A.1    Nishio, H.2    Waku, S.3
  • 16
    • 0028904620 scopus 로고
    • Analysis of genes for bilirubin UDP-glucuronosyl transferase in Gilbert's syndrome
    • Aono S, Adachi Y, Uyama E et al. Analysis of genes for bilirubin UDP-glucuronosyl transferase in Gilbert's syndrome. Lancet 1995; 345: 958-9.
    • (1995) Lancet , vol.345 , pp. 958-959
    • Aono, S.1    Adachi, Y.2    Uyama, E.3
  • 17
    • 0028862469 scopus 로고
    • Predicted homozygous mis-sense mutation in Gilbert's syndrome
    • Soeda Y, Yamamoto K, Adachi Y et al. Predicted homozygous mis-sense mutation in Gilbert's syndrome. Lancet 1995; 346: 1494.
    • (1995) Lancet , vol.346 , pp. 1494
    • Soeda, Y.1    Yamamoto, K.2    Adachi, Y.3
  • 18
    • 0038271981 scopus 로고    scopus 로고
    • Comprehensive UGT1A1 genotyping in a Japanese population by pyrosequencing
    • Saeki M, Saito Y, Jinno H etal. Comprehensive UGT1A1 genotyping in a Japanese population by pyrosequencing. Clin. Chem. 2003; 49: 1182-5.
    • (2003) Clin. Chem. , vol.49 , pp. 1182-1185
    • Saeki, M.1    Saito, Y.2    Jinno, H.3
  • 19
    • 0000520709 scopus 로고
    • Comparative DNA sequencing by denaturing high performance liquid chromatography (DHPLC)
    • Oefner PJ, Underhill PA. Comparative DNA sequencing by denaturing high performance liquid chromatography (DHPLC). Am. J. Hum. Genet. 1995; 57: A226.
    • (1995) Am. J. Hum. Genet. , vol.57
    • Oefner, P.J.1    Underhill, P.A.2
  • 20
    • 0032520681 scopus 로고    scopus 로고
    • Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations
    • Liu W, Smith DI, Rechtzigel KJ et al. Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations. Nucl. Acids Res. 1998;26:1396-400.
    • (1998) Nucl. Acids Res. , vol.26 , pp. 1396-1400
    • Liu, W.1    Smith, D.I.2    Rechtzigel, K.J.3
  • 21
    • 0032529112 scopus 로고    scopus 로고
    • Blind analysis of denaturing-high performance liquid chromatography as a tool for mutation detection
    • O'Donovan MC, Oefner PJ, Roberts SC et al. Blind analysis of denaturing-high performance liquid chromatography as a tool for mutation detection. Genomics 1998; 52: 44-9.
    • (1998) Genomics , vol.52 , pp. 44-49
    • O'Donovan, M.C.1    Oefner, P.J.2    Roberts, S.C.3
  • 22
    • 0033572622 scopus 로고    scopus 로고
    • Denaturing high-performance chromatography detects reliably BRCA1 and BRCA2 mutations
    • Wagner T, Stoppa-Lyonnet D, Fleischmann E et al. Denaturing high-performance chromatography detects reliably BRCA1 and BRCA2 mutations. Genomics 1999; 62: 369-76.
    • (1999) Genomics , vol.62 , pp. 369-376
    • Wagner, T.1    Stoppa-Lyonnet, D.2    Fleischmann, E.3
  • 23
    • 0032878113 scopus 로고    scopus 로고
    • Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis
    • Jones AC, Austin J, Hansen N et al. Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis. Clin. Chem. 1999; 45: 1133-40.
    • (1999) Clin. Chem. , vol.45 , pp. 1133-1140
    • Jones, A.C.1    Austin, J.2    Hansen, N.3
  • 24
    • 0033501118 scopus 로고    scopus 로고
    • Superiority of denaturing high performance liquid chromatography over single stranded conformation and conformation sensitive gel electrophoresis for mutation detection in TSC2
    • Choy YS, Dabora SL, Hall F et al. Superiority of denaturing high performance liquid chromatography over single stranded conformation and conformation sensitive gel electrophoresis for mutation detection in TSC2. Ann. Hum. Genet. 1999; 63: 383-91.
    • (1999) Ann. Hum. Genet. , vol.63 , pp. 383-391
    • Choy, Y.S.1    Dabora, S.L.2    Hall, F.3
  • 25
    • 0034522031 scopus 로고    scopus 로고
    • Mutation detection in the human HSP708' gene by denaturing high-performance liquid chromatography
    • Hecker KH, Asea A, Kobayashi K et al. Mutation detection in the human HSP708' gene by denaturing high-performance liquid chromatography. Cell Stress Chaperones 2000; 5: 415-24.
    • (2000) Cell Stress Chaperones , vol.5 , pp. 415-424
    • Hecker, K.H.1    Asea, A.2    Kobayashi, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.