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人类基因组计划与医学的未来。

The Human Genome Project and the future of medicine.

作者信息

Guyer M S, Collins F S

机构信息

National Center for Human Genome Research, National Institutes of Health, Bethesda, Md. 20892.

出版信息

Am J Dis Child. 1993 Nov;147(11):1145-52. doi: 10.1001/archpedi.1993.02160350019003.

Abstract

The Human Genome Project is an international research effort the goal of which is to analyze the structure of human DNA and to determine the location of the estimated 100,000 human genes. Another component of the program is to analyze the DNA of a set of nonhuman model organisms to provide comparative information that is essential for understanding how the human genome functions. The project began formally in 1990. In this report, we summarize the rapid progress that has already been made; the impact that the resources already developed by the Human Genome Project have had on the ability of investigators to identify and isolate human genes, particularly those associated with disease; and the promise that the project offers for profoundly altering our approach to medical care, from one of treatment of advanced disease to prevention based on the identification of individual risk.

摘要

人类基因组计划是一项国际研究工作,其目标是分析人类DNA的结构,并确定估计的10万个人类基因的位置。该计划的另一个组成部分是分析一组非人类模式生物的DNA,以提供对于理解人类基因组如何发挥功能至关重要的比较信息。该项目于1990年正式启动。在本报告中,我们总结了已经取得的快速进展;人类基因组计划已经开发的资源对研究人员识别和分离人类基因,特别是那些与疾病相关的基因的能力所产生的影响;以及该项目为深刻改变我们的医疗保健方式所带来的希望,即从治疗晚期疾病转变为基于识别个体风险的预防。

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