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人类疾病基因。

Human disease genes.

作者信息

Jimenez-Sanchez G, Childs B, Valle D

机构信息

Department of Pediatrics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.

出版信息

Nature. 2001 Feb 15;409(6822):853-5. doi: 10.1038/35057050.

Abstract

The complete human genome sequence will facilitate the identification of all genes that contribute to disease. We propose that the functional classification of disease genes and their products will reveal general principles of human disease. We have determined functional categories for nearly 1,000 documented disease genes, and found striking correlations between the function of the gene product and features of disease, such as age of onset and mode of inheritance. As knowledge of disease genes grows, including those contributing to complex traits, more sophisticated analyses will be possible; their results will yield a deeper understanding of disease and an enhanced integration of medicine with biology.

摘要

完整的人类基因组序列将有助于识别所有导致疾病的基因。我们认为,疾病基因及其产物的功能分类将揭示人类疾病的一般规律。我们已经确定了近1000个已记录的疾病基因的功能类别,并发现基因产物的功能与疾病特征(如发病年龄和遗传方式)之间存在显著相关性。随着对疾病基因(包括那些导致复杂性状的基因)的了解不断增加,将有可能进行更复杂的分析;其结果将使我们对疾病有更深入的理解,并加强医学与生物学的整合。

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