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黄疸相关基因。

Genes for jaundice.

作者信息

Hardikar W

机构信息

Department of Gastroenterology, Royal Children's Hospital, Parkville, Victoria, Australia.

出版信息

J Paediatr Child Health. 1999 Dec;35(6):522-4. doi: 10.1046/j.1440-1754.1999.00431.x.

Abstract

The inheritable causes of jaundice comprise a large group of conditions of varying frequency, from Gilbert's syndrome which is relatively common, to the very rare Crigle-Najjar syndrome. Although these conditions have been well characterized clinically and in some cases biochemically, the underlying molecular defects were unknown because of a lack of knowledge about the process of bile secretion by hepatocytes. The recent cloning of several transporters for bile acids and other organic anions has enabled a greater understanding of this process and allowed correlation of the malfunction of these genes with specific disease processes. This new knowledge will provide for precision in diagnosis, allow antenatal testing and provide opportunities for gene therapy for some of the more serious disorders.

摘要

黄疸的遗传性病因包括一大类发病率各异的病症,从相对常见的吉尔伯特综合征到极为罕见的克里格勒-纳贾尔综合征。尽管这些病症在临床和某些情况下在生化方面已得到充分表征,但由于缺乏对肝细胞胆汁分泌过程的了解,其潜在的分子缺陷尚不清楚。最近几种胆汁酸和其他有机阴离子转运蛋白的克隆,使得人们对这一过程有了更深入的理解,并能够将这些基因的功能异常与特定疾病过程联系起来。这一新知识将提高诊断的准确性,实现产前检测,并为一些更严重的疾病提供基因治疗的机会。

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Genes for jaundice.黄疸相关基因。
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