Recently, PLoS ONE published the latest research results A Map of Copy Number Variations in Chinese Populations of Researcher Xu Shuhua and Professor Jin Li of the Institute of Computational Biology, Chinese Academy of Sciences Shanghai Institute of Biological Sciences. This work constructed the first copy number variation map including Chinese Han and ethnic minorities, which provides a new perspective and data information reference for studying the genomic diversity, population differentiation and environmental adaptation, and complex trait gene mapping of the Chinese population.
Copy Number Variation (CNV) has been a research hotspot in the field of human genome and genetics in recent years. So far, the copy number variation study of the Chinese population is just like that almost all the genome-wide association studies (GWAS) are conducted among the Han people. Whether it is a large-scale international cooperation program or domestic independent work, most of the work is concentrated on the Han population. However, on the one hand, the vast majority of the genetic diversity of the Chinese population exists among ethnic minorities, on the other hand, the effect on other changes such as single nucleotide polymorphisms for gene function and phenotypic copy number variation is much greater Many, but its frequency is also low, so that looking for copy number variations associated with specific phenotypes or diseases in the whole genome often needs to refer to the database.
This work used Affymetrix chip technology to detect genome-wide copy number variations in samples of Han, Tibetan, Dong, Yao, Zhuang, Li and Uyghur populations using information from nearly 1 million copy number variation probes; It also systematically compares and analyzes the genomic diversity and group differences between ethnic minorities, Han nationality, Chinese people and people from other continents in the world. The study found that up to 35% of the copy number variation area is not shared between ethnic minority and Han populations; compared with the results of the European population, tag copy number variation (tag CNV) is much less portable between Chinese populations , Prompting the need for a comprehensive study of copy number variation in the Chinese population. Further research indicates that group-specific copy number variation may be related to the population's long-term adaptation to their specific living environment.
The work was completed by doctoral student Lou Haiyi under the guidance of tutor Professor Jin Li and researcher Xu Shuhua in collaboration with researchers from Fudan University and Harvard Pediatric Hospital. The research work was supported by various funds such as the National Natural Science Foundation of China, the Shanghai Municipal Science and Technology Commission, the Chinese Academy of Sciences, the German Max Planck Society, and the Hong Kong Wang Kuancheng Education Foundation.
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