Coexistence of HFE and rare UGT1A1 genes mutations in patients with iron overload related liver injury

被引：1

作者：

Sikorska, K. ^{[1
]}

Romanowski, T. ^{[2
]}

Stalke, P. ^{[1
]}

Jaskiewicz, K. ^{[3
]}

Bielawski, K. P. ^{[2
]}

机构：

[1] Med Univ Gdansk, Dept Infect Dis, PL-80214 Gdansk, Poland

[2] Univ Gdansk, Dept Biotechnol, Mol Diagnost Div, Intercollegiate Fac Biotechnol, PL-80952 Gdansk, Poland

[3] Med Univ Gdansk, Dept Pathol, PL-80214 Gdansk, Poland

来源：

ADVANCES IN MEDICAL SCIENCES | 2010年 / 55卷 / 01期

关键词：

hepatitis; chronic; iron overload; HFE gene mutations; iron deposits in hepatocytes; UGT1A1 gene mutations; HEREDITARY HEMOCHROMATOSIS; GILBERTS-SYNDROME; BILIRUBIN; UDP-GLUCURONOSYLTRANSFERASE-1; POLYMORPHISM; POPULATION; HAPLOTYPES; PROMOTER;

D O I：

10.2478/v10039-010-0003-x

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

This report describes two patients hospitalised in Hepatology Unit, Infectious Diseases Department Medical University of Gdansk because of liver damage discovered in family doctor's practice. Hereditary hemochromatosis was diagnosed in both cases. Diagnosis was established basing on medical records review, and biochemical, molecular and liver specimen tests. The analysis of polymorphism of UGT1A1 gene was done in these cases because those patients were a part of the larger study on prevalence of UGT1A1 gene mutations in patients with hereditary hemochromatosis. We discovered rare variant forms of UGT1A1 gene coexisting with HFE gene mutations.

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收藏

页码：108 / 110

页数：3

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