Neonatal hyperbilirubinemia and a common mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese

Journal of Human Genetics

Volumn 44, Issue 1, 1999, Pages 22-25

  Akaba, Kazuhiro ^a   Kimura, Toshiyuki ^a   Sasaki, Ayako ^a   Tanabe, Saori ^a   Wakabayashi, Takashi ^a   Hiroi, Masahiko ^a   Yasumura, Seiji ^a   Maki, Kazuko ^b   Aikawa, Shogo ^b   Hayasaka, Kiyoshi ^a  

^a YAMAGATA UNIVERSITY   (Japan)

^b YAMAGATA PREFECTURAL INSTITUTE OF PUBLIC HEALTH   (Japan)

Author keywords

Bilirubin uridine diphosphate glucuronosyltransferase; Gilbert syndrome; Neonatal hyperbilirubinemia

Indexed keywords

ARGININE; GLUCURONOSYLTRANSFERASE; GLYCINE;

ARTICLE; CONTROLLED STUDY; ENZYME ANALYSIS; FEMALE; GENE FREQUENCY; GENOTYPE; GILBERT DISEASE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERBILIRUBINEMIA; INCIDENCE; JAPAN; MAJOR CLINICAL STUDY; MALE; NEWBORN; NEWBORN DISEASE; NEWBORN JAUNDICE; PHOTOTHERAPY; POPULATION RISK;

BASE SEQUENCE; DNA PRIMERS; FEMALE; GENE FREQUENCY; GILBERT DISEASE; GLUCURONOSYLTRANSFERASE; HUMANS; INFANT, NEWBORN; JAPAN; JAUNDICE, NEONATAL; MALE; POINT MUTATION;

EID: 6544244602     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380050100     Document Type: Article

References (15)

1. Akaba K, Kimura T, Sasaki A, Tanabe S, Ikegami T, Hashimoto M, Umeda H, Yoshida H, Umetsu K, Chiba H, Yuasa I, Hayasaka K (1998) Neonatal hyperbilirubinemia and mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene: A common mutation among Japanese, Koreans and Chinese. Biochem Mol Biol Int 46: 21-26
2. Aono S, Adachi Y, Uyama E, Yamada Y, Keino H, Nanno T, Koiwai O. Sato H (1995) Analysis of genes for biliruhin UDP-glucuronosyltransferase in Gilbert's syndrome. Lancet 345: 958-959
3. Bancroft JD, Kreamer B, Gourley GR (1998) Gilbert syndrome accelerates development of neonatal jaundice. J Pediatr 132: 656-660
4. Bosma PJ, Chowdhury JR, Bakker C, Gantla S, de Boer A, Oostra BA, Lindhout D, Tytgat GN, Jansen PL, Oude Elferink RPJ, Chowdhury NR (1995) The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. N Engl J Med 333: 1171-1175
5. Chowdhury JR, Wolkoff AW, Chowdhury NR, Arias IM (1995) Hereditary jaundice and disorders of the bilirubin metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. Mc-Graw-Hill, New York, pp 2161-2208
6. Fischer AF, Nakamura H, Uetani Y, Vreman HJ, Stevenson DK (1988) Comparison of bilirubin production in Japanese and Caucasian infants. J Pediatr Gastroenterol Nutr 7: 27-29
7. Halamek LP, Stevenson DK (1997) Neonatal jaundice and liver disease. In: Fanaroff AA, Martin RJ (eds) Neonatal-perinatal medicine: Diseases of the fetus and infant. Mosby, St. Louis, pp 1345-1389
8. Jinks DC, Minter M, Tarver DA, Vanderford M, Hejtmancik JF, McCabe ER (1989) Molecular genetic diagnosis of sickle cell disease using dried specimens on blottters used for newborn screening. Hum Genet 81: 363-366
9. Kaplan M, Renbaum P, Levy-Lahad E, Hammerman C, Lahad A, Beutler E (1997) Gilbert syndrome and glucose-6-phosphate dehydrogenase deficiency: A dose-dependent genetic interaction crucial to neonatal hyperbilirubinemia. Proc Natl Acad Sci USA 94: 12 128-12 132
10. Koiwai O, Nishizawa M, Hasada K, Aono S, Adachi Y, Mamiya N, Sato H (1995) Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase. Hum Mol Genet 4: 1183-1186
11. Monaghan G, Ryan M, Seddon R, Hume R, Burchell B (1996) Genetic variation in bilirubin UDP-glucuronosyltransferase gene promoter and Gilbert's syndrome. Lancet 347: 578-581
12. Ritter JK, Crawford JM, Owens IS (1991) Cloning of human liver bilirubin UDP-glucuronosyltransferase cDNAs with expressin in COS-1 cells. J Biol Chem 266: 1043-1047
13. Ritter JK, Chen F, Sheen YY, Tran HM, Kimura S, Yeatman MT, Owens IS (1992) A novel complex locus UGT1 encodes human bilirubin, phenol, and other UDP-glucuronosyltransferase isozymes with identical carboxyl termini. J Biol Chem 267: 3257-3261
14. Yamanouchi I, Yamauchi Y, Igarashi I (1980) Transcutaneous bilirubinometry: Preliminary studies of noninvasive transcutaneous bilirubin meter in the Okayama National Hospital. Pediatr 65: 195-202
15. Yao TC, Stevenson DK (1995) Advances in the diagnosis and treatment of neonatal hyperbilirubinemia. Clin Perinatol 22: 741-758