Multiplicity of mutation in UDP-glucuronosyltransferase 1*1 gene in Gilbert's syndrome

International Hepatology Communications

Volumn 6, Issue 5, 1997, Pages 249-252

  Kamisako, Toshinori ^a   Soeda, Yoko ^b   Yamamoto, Kazuo ^c   Sato, Hiroshi ^c   Adachi, Yukihiko ^a,d  

^a KINKI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b MEIJI UNIVERSITY OF INTEGRATIVE MEDICINE   (Japan)

^c SHIGA UNIVERSITY OF MEDICAL SCIENCE   (Japan)

^d MIE UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

bilirubin UDP glucuronosyltransferase; gene mutation; Gilbert's syndrome; heredity

Indexed keywords

BILIRUBIN; GLUCURONOSYLTRANSFERASE;

ADULT; ARTICLE; CLINICAL ARTICLE; FEMALE; GENE MUTATION; GILBERT DISEASE; HEREDITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPERBILIRUBINEMIA; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

EID: 0031079821     PISSN: 09284346     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0928-4346(97)00354-X     Document Type: Article

References (11)

1. [1] Roy Chowdhury J, Roy Chowdhury N, Wolkoff AW, Arias IM. Heme and bile pigment metabolism. In: Arias, I.M., Boyer, J.L., Fausto, N., Jakoby, W.B., Schacter, D.A., eds. The Liver: Biology and Pathobiology. 3rd Edn. New York: Raven Press, 1994; 471-504.
2. [2] Black M, Billing BH. Hepatic bilirubin UDP-glucuronyl-transferase activity in liver disease and Gilbert's syndrome. N Engl J Med 1969; 280: 1266-1271.
3. [3] Aono S, Adachi Y, Uyama E, et al. Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome. Lancet 1995; 345: 958-959.
4. [4] Koiwai O, Nishizawa M, Hasada K, et al. Gilbert's syndrome is caused by heterozygous mis-sense mutation in the gene for bilirubin UDP-glucuronosyltransferase. Hum Mol Genet 1995; 4: 1183-1186.
5. [5] Soeda Y, Yamamoto K, Adachi Y, et al. Predicted homozygous mis-sense mutation in Gilbert's syndrome. Lancet 1995; 346: 1494.
6. [6] Bosma PJ, Roy Chowdhury J, Bekker C, et al. The genetic bases of the reducted expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. N Engl J Med 1995; 333: 1171-1175.
7. [7] Monaghan G, Ryan S, Hume R, Burchell B. Genetic variation in bilirubin UDP-glucuronosyltransferase gene promoter and Gilbert's syndrome. Lancet 1996; 347: 578-581.
8. [8] Wu T-W, Dappen GM, Spayd RW, Sundberg MW, Powers GM. The Kodak Ektachem clinical chemistry slide for simultaneous determination of unconjugated and sugar-conjugated bilirubin. Clin Chem 1984; 30: 1304-1309.
9. [9] Proncz M, Solwiejczyk D, Harpel B, Mory Y, Schwartz E, Surrey S. Construction of human gene libraries from small amounts of peripheral blood: analysis of β-like globin genes. Hemoglobin 1982; 6: 27-36.
10. [10] Aono S, Yamada Y, Keino H, et al. A new type of defect in the gene for bilirubin uridine 5′-diphosphate-glucuronosyltransferase in a patient with Crigler-Najjar syndrome type 1. Pediatr Res 1994; 35: 629-632.
11. [11] Schmid R. Gilbert's syndrome - A legitimate genetic anomaly. N Engl J Med 1995; 333: 1217-1218.