The polymorphism c.-3279T>G in the phenobarbital-responsive enhancer module of the bilirubin UDP-glucuronosyltransferase gene is associated with Gilbert syndrome

被引:24
作者
Costa, E
Vieira, E
dos Santos, R
机构
[1] Escola Super Saude, Inst Politecn Braganca, P-5300121 Braganca, Portugal
[2] Inst Genet Med Dr Jacinto Magalhaes, Unidade Genet Mol, Oporto, Portugal
关键词
D O I
10.1373/clinchem.2005.055681
中图分类号
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号
1001 ;
摘要
[No abstract available]
引用
收藏
页码:2204 / 2206
页数:3
相关论文
共 14 条
[1]   Gilbert syndrome accelerates development of neonatal jaundice [J].
Bancroft, JD ;
Kreamer, B ;
Gourley, GR .
JOURNAL OF PEDIATRICS, 1998, 132 (04) :656-660
[2]   Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter:: A balanced polymorphism for regulation of bilirubin metabolism? [J].
Beutler, E ;
Gelbart, T ;
Demina, A .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1998, 95 (14) :8170-8174
[3]  
Biondi ML, 1999, CLIN CHEM, V45, P897
[4]   Molecular diagnosis of a familial nonhemolytic hyperbilirubinemia (Gilbert's syndrome) in healthy subjects [J].
Borlak, J ;
Thum, T ;
Landt, O ;
Erb, K ;
Hermann, R .
HEPATOLOGY, 2000, 32 (04) :792-795
[5]   THE GENETIC-BASIS OF THE REDUCED EXPRESSION OF BILIRUBIN UDP-GLUCURONOSYLTRANSFERASE-1 IN GILBERTS-SYNDROME [J].
BOSMA, PJ ;
CHOWDHURY, JR ;
BAKKER, C ;
GANTLA, S ;
DEBOER, A ;
OOSTRA, BA ;
LINDHOUT, D ;
TYTGAT, GNJ ;
JANSEN, PLM ;
ELFERINK, RPJO ;
CHOWDHURY, NR .
NEW ENGLAND JOURNAL OF MEDICINE, 1995, 333 (18) :1171-1175
[6]  
COSTA E, 2002, HAEMATOLOGICA, V87
[7]   Haplotypes of variants in the UDP-glucuronosyltransferase 1A9 and 1A1 genes [J].
Innocenti, F ;
Liu, WQ ;
Chen, PX ;
Desai, AA ;
Das, S ;
Ratain, MJ .
PHARMACOGENETICS AND GENOMICS, 2005, 15 (05) :295-301
[8]  
Kitagawa Chiyoe, 2005, Pharmacogenet Genomics, V15, P35, DOI 10.1097/01213011-200501000-00006
[9]   Two linked polymorphic mutations (A(TA)7TAA and T-3279G) of UGT1A1 as the principal cause of Gilbert syndrome [J].
Maruo, Y ;
D' Addario, C ;
Mori, A ;
Iwai, M ;
Takahashi, H ;
Sato, H ;
Takeuchi, Y .
HUMAN GENETICS, 2004, 115 (06) :525-526
[10]  
Pirulli D, 2000, CLIN CHEM, V46, P129