Linkage between A(TA)7 TAA and - 3279T>G mutations in UGT1A1 is not essential for pathogenesis of Gilbert syndrome [3]

Liver International

Volumn 26, Issue 10, 2006, Pages 1302-1303

  Jirsa, Milan ^a,b   Petrasek, Jan ^a   Vitek, Libor ^b  

^a INSTITUTE FOR CLINICAL AND EXPERIMENTAL MEDICINE   (Czech Republic)

^b CHARLES UNIVERSITY   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; BILIRUBIN; GENOMIC DNA; GLUCURONOSYLTRANSFERASE 1A1; GUANINE; TYROSINE; BILIRUBIN URIDINE DIPHOSPHOGLUCURONOSYL TRANSFERASE 1A1; BILIRUBIN URIDINE-DIPHOSPHOGLUCURONOSYL TRANSFERASE 1A1; GLUCURONOSYLTRANSFERASE;

ALLELE; CAUCASIAN; CONTROLLED STUDY; DNA SEQUENCE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; GENOTYPE; GILBERT DISEASE; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; JAPAN; LETTER; MAJOR CLINICAL STUDY; PATHOGENESIS; POLYMERASE CHAIN REACTION; PROMOTER REGION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; GENETICS; MUTATION;

GILBERT DISEASE; GLUCURONOSYLTRANSFERASE; HUMANS; LINKAGE DISEQUILIBRIUM; MUTATION;

EID: 33751006708     PISSN: 14783223     EISSN: 14783231     Source Type: Journal    
DOI: 10.1111/j.1478-3231.2006.01359.x     Document Type: Letter

References (6)

1. Bosma P J, Chowdhury J R, Bakker C, et al. The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. N Engl J Med 1995; 333: 1171-5.
2. Sugatani J, Yamakawa K, Yoshinari K, et al. Identification of a defect in the UGT1A1 gene promoter and its association with hyperbilirubinemia. Biochem Biophys Res Commun 2002; 292: 492-7.
3. Maruo Y, D'Addario C, Mori A, et al. Two linked polymorphic mutations (A(TA)7TAA and T-3279G) of UGT1A1 as the principal cause of Gilbert syndrome. Hum Genet 2004; 115: 525-6.
4. Cebecauerova D, Jirasek T, Budisova L, et al. Dual hereditary jaundice: simultaneous occurrence of mutations causing Gilbert's and Dubin-Johnson syndrome. Gastroenterology 2005; 129: 315-20.
5. Costa E, Vieira E, Dos Santos R. The polymorphism c.-3279T>G in the phenobarbital-responsive enhancer module of the bilirubin UDP-glucuronosyltransferase gene is associated with Gilbert syndrome. Clin Chem 2005; 51: 2204-6.
6. Innocenti F, Liu W, Chen P, Desai A A, Das S, Ratain M J. Haplotypes of variants in the UDP-glucuronosyltransferase1A9 and 1A1 genes. Pharmacogenet Genom 2005; 15: 295-301.