人类基因组拷贝数变异与新药研究开发

主要论述人类基因组拷贝数变异与新药研究开发的进展。参阅近年来文献,对基因拷贝数变异、基因拷贝数变异图谱与疾病关联的研究及重大疾病新药研究开发的进展进行综述。人类基因组拷贝数变异(CNVs)或称拷贝数多态性(CNPs)是人类基因组变异研究的新发展。首次综合性的人类基因组的拷贝数变异图谱为基因结构和人类疾病研究提供了一个重要的资源,为新药的研究开发开拓了更加广阔的前景。

The Copy Number Variation in the Human Genome and the Research and Development of New Drugs

To expound the progress in study of the copy number variation in human genome and the research and development of new drug.Based on the literature in recent years the copy number variation,the map of copy number variation related to disease and research and development of new drugs in major disease are reviewed.The copy number variation(CNVs) or copy number polymorphism(CNPs) in the human genome are a new development in the studies of gene variation.The first comprehensive map of copy number variation in the human genome provides an important resource for studies of genome structure and human disease,and it will open up board prospects for carrying out the research and development of new drugs.