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综述:遗传性肝病的分子研究方法。聚焦于威尔逊病。

Review: molecular approaches to inherited liver disease. Focus on Wilson disease.

作者信息

Cox D W

机构信息

Department of Medical Genetics, University of Alberta, Edmonton, Canada.

出版信息

J Gastroenterol Hepatol. 1997 Oct;12(9-10):S251-5. doi: 10.1111/j.1440-1746.1997.tb00508.x.

Abstract

Although infectious agents account for a large proportion of liver disease, inherited forms of liver disease, often treatable, must not be overlooked. New approaches to the cloning of disease genes are allowing an increased understanding of the basic defect of human diseases. Identification of disease genes can have practical applications for diagnosis, can provide information on prognosis and can lead to new therapies. This review focuses on selected inherited liver diseases and the knowledge to be gained from molecular studies. Three genetic diseases affecting the liver, Wilson disease, haemochromatosis and alpha 1-antitrypsin deficiency, are selected as examples of current approaches to the study of genetic liver disease.

摘要

尽管感染因子在肝脏疾病中占很大比例,但遗传性肝脏疾病(通常是可治疗的)也不容忽视。疾病基因克隆的新方法使人们对人类疾病的基本缺陷有了更多了解。疾病基因的鉴定在诊断方面具有实际应用价值,能提供预后信息,并可带来新的治疗方法。本综述聚焦于特定的遗传性肝脏疾病以及从分子研究中获得的知识。选取三种影响肝脏的遗传性疾病——威尔逊病、血色素沉着症和α1抗胰蛋白酶缺乏症,作为当前遗传性肝脏疾病研究方法的示例。

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