检测与吉尔伯特综合征相关的胆红素-UDP-葡萄糖醛酸基转移酶1基因启动子中额外（TA）序列的快速方法。 - Suppr

Rapid method for detection of extra (TA) in the promoter of the bilirubin-UDP-glucuronosyl transferase 1 gene associated with Gilbert syndrome.

作者信息

Pirulli D, Giordano M, Puzzer D, Crovella S, Rigato I, Tiribelli C, Momigliano-Richiardi P, Amoroso A

机构信息

Servizio di Genetica Medica, Instituto di Ricovero e Cura a Carattere Scientifico Burlo Garofolo and Università di Trieste, 34137 Trieste, Italy.

出版信息

Clin Chem. 2000 Jan;46(1):129-31.

PMID:10620585

Abstract

摘要

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Rapid method for detection of extra (TA) in the promoter of the bilirubin-UDP-glucuronosyl transferase 1 gene associated with Gilbert syndrome.检测与吉尔伯特综合征相关的胆红素-UDP-葡萄糖醛酸基转移酶1基因启动子中额外（TA）序列的快速方法。

Clin Chem. 2000 Jan;46(1):129-31.

Use of double gradient denaturing gradient gel electrophoresis to detect (AT)n polymorphisms in the UDP-glucuronosyltransferase 1 gene promoter associated with Gilbert's syndrome.使用双梯度变性梯度凝胶电泳检测与吉尔伯特综合征相关的尿苷二磷酸葡萄糖醛酸转移酶1基因启动子中的(AT)n多态性。

Electrophoresis. 1999 Oct;20(14):2841-3. doi: 10.1002/(SICI)1522-2683(19991001)20:14<2841::AID-ELPS2841>3.0.CO;2-V.

[A study of polymorphism in UDP-glucuronosyltransferase 1 (UGT-1A1) promoter gene in Korean patients with Gilbert's syndrome].[韩国吉尔伯特综合征患者尿苷二磷酸葡萄糖醛酸基转移酶1（UGT - 1A1）启动子基因多态性研究]

Taehan Kan Hakhoe Chi. 2002 Jun;8(2):132-8.

Polymorphism in the promoter region of the bilirubin UDP-glucuronosyltransferase (Gilbert's syndrome) in healthy Dutch subjects.

Hepatology. 2001 Mar;33(3):765. doi: 10.1053/jhep.2001.0103303le03.

The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome.吉尔伯特综合征中胆红素UDP-葡萄糖醛酸基转移酶1表达降低的遗传基础。

N Engl J Med. 1995 Nov 2;333(18):1171-5. doi: 10.1056/NEJM199511023331802.

[Relationship between bilirubin UDP-glucuronosyl transferase polymorphism and neonatal jaundice].

Zhongguo Dang Dai Er Ke Za Zhi. 2007 Oct;9(5):510-3.

Gilbert syndrome caused by a homozygous missense mutation (Tyr486Asp) of bilirubin UDP-glucuronosyltransferase gene.

J Pediatr. 1998 Jun;132(6):1045-7. doi: 10.1016/s0022-3476(98)70408-1.

The polymorphism c.-3279T>G in the phenobarbital-responsive enhancer module of the bilirubin UDP-glucuronosyltransferase gene is associated with Gilbert syndrome.胆红素UDP-葡萄糖醛酸基转移酶基因中苯巴比妥反应增强子模块的c.-3279T>G多态性与吉尔伯特综合征相关。

Clin Chem. 2005 Nov;51(11):2204-6. doi: 10.1373/clinchem.2005.055681.

[Gilbert syndrome].[吉尔伯特综合征]

Orv Hetil. 2008 Jul 6;149(27):1277-82. doi: 10.1556/OH.2008.28381.

TATA-Box polymorphism in the uridine diphosphate glucuronosyl transferase gene in Portuguese patients with clinical diagnosis of Gilbert Syndrome.葡萄牙临床诊断为吉尔伯特综合征患者尿苷二磷酸葡萄糖醛酸基转移酶基因中的TATA盒多态性

Haematologica. 2002 Apr;87(4):ELT21.

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Genotyping of macrophage migration inhibitory factor (MIF) CATT₅₋₈ repeat polymorphism by denaturing high-performance liquid chromatography (DHPLC).采用变性高效液相色谱法（DHPLC）对巨噬细胞移动抑制因子（MIF）CATT₅₋₈重复多态性进行基因分型。

Mol Biotechnol. 2013 Jul;54(3):874-9. doi: 10.1007/s12033-012-9636-2.

Can UGT1A1 genotyping reduce morbidity and mortality in patients with metastatic colorectal cancer treated with irinotecan? An evidence-based review.UGT1A1基因分型能否降低接受伊立替康治疗的转移性结直肠癌患者的发病率和死亡率？一项基于证据的综述。

Genet Med. 2009 Jan;11(1):21-34. doi: 10.1097/GIM.0b013e31818efd77.

Recommendations from the EGAPP Working Group: can UGT1A1 genotyping reduce morbidity and mortality in patients with metastatic colorectal cancer treated with irinotecan?EGAPP工作组的建议：UGT1A1基因分型能否降低接受伊立替康治疗的转移性结直肠癌患者的发病率和死亡率？

Genet Med. 2009 Jan;11(1):15-20. doi: 10.1097/GIM.0b013e31818efd9d.

Rapid allelic discrimination by TaqMan PCR for the detection of the Gilbert's syndrome marker UGT1A1*28.通过TaqMan PCR进行快速等位基因鉴别以检测吉尔伯特综合征标志物UGT1A1*28

J Mol Diagn. 2008 Nov;10(6):549-52. doi: 10.2353/jmoldx.2008.080036. Epub 2008 Oct 2.

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Rapid method for detection of extra (TA) in the promoter of the bilirubin-UDP-glucuronosyl transferase 1 gene associated with Gilbert syndrome.

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