a map of copy number variations in chinese populations在中国人群中拷贝数变化的地图.pdfVIP

A Map of Copy Number Variations in Chinese Populations 1. 2. 2 2 2 1 2,3 1,2 Haiyi Lou , Shilin Li , Yajun Yang , Longli Kang , Xin Zhang , Wenfei Jin , Bailin Wu , Li Jin *, Shuhua Xu1* 1 Chinese Academy of Sciences Key Laboratory of Computational Biology, Chinese Academy of Sciences and Max Planck Society (CAS-MPG) Partner Institute for Computational Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, China, 2 Ministry of Education (MOE) Key Laboratory of Contemporary Anthropology, School of Life Sciences and Institutes of Biomedical Sciences, Fudan University, Shanghai, China, 3 Children’s Hospital Boston, Harvard Medical School, Boston, Massachusetts, United States of America Abstract It has been shown that the human genome contains extensive copy number variations (CNVs). Investigating the medical and evolutionary impacts of CNVs requires the knowledge of locations, sizes and frequency distribution of them within and between populations. However, CNV study of Chinese minorities, which harbor the majority of genetic diversity of Chinese populations, has been underrepresented considering the same efforts in other populations. Here we constructed, to our knowledge, a first CNV map in seven Chinese populations representing the major linguistic groups in China with 1,440 CNV regions identified using Affymetrix SNP 6.0 Array. Considerable differences in distributions of CNV regions between populations and substantial population structures were observed. We showed that ,35% of CNV regions identified in minority ethnic groups are not shared by Han Chinese popul