中国不同民族永生细胞库的建立和应用  

The establishment and applications of the Immortal Cell Banks of Chinese ethnic groups

作　　者：杨昭庆[1] 黄小琴[1] 孙浩[1] 边成 林克勤[1] 褚嘉祐[1] YANG ZhaoQing;HUANG XiaoQin;SUN Hao;BIAN Cheng;LIN KeQin;CHU JiaYou(Department of Medical Genetics,Institute of Medical Biology,Chinese Academy of Medical Sciences&Peking Union Medical College,Kunming 650118,China)

机构地区：[1]中国医学科学院&北京协和医学院医学生物学研究所,昆明650118

出　　处：《中国科学：生命科学》2024年第6期987-1001,共15页Scientia Sinica(Vitae)

基　　金：云南省重点研发计划(批准号:202103AF140002);云南省高层次卫生健康技术人才项目(批准号:L-2018003)。

摘　　要：人类遗传资源具有重要的生命科学和医学研究及应用价值,国际不同民族群体遗传多样性研究具有重要意义,中国不同民族在民族渊源、语言、地理环境、生活习俗乃至生理表型和疾病易感性等方面存在差异,为医学与健康研究提供丰富的遗传资源材料.EB病毒(Epstein-Barr Virus,EBV)转化的永生化B淋巴细胞为是保存人类遗传资源的一种主要方式“中国不同民族永生细胞库”历时二十多年,已经建成包括49个法定民族,90多个群体,6126人份的永生细胞株的样本库.作为重要的国家战略资源,中国不同民族永生细胞库及其来源的核酸为中国人群遗传结构特征、基因变异、表达和功能等研究和应用提供研究材料,展现在药物发现、疫苗、抗体和干细胞等领域的应用潜力,显著促进中国在人类遗传资源的国际交流与合作,并伴随着高通量测序和基因编辑等先进技术的发展,将为人类生命科学研究和临床转化应用提供更具广阔前景的工具和资源.Human genetic resources are of great research significance.Different ethnic groups in China have their characteristics in terms of ethnic origin,settlement,language,culture,and customs.Due to the difference in founder effect,geographical environment and lifestyle,there are differences in physiological phenotype and disease susceptibility among the Chinese ethnic groups,which provides rich materials for medical and health research.For more than 20 years,the Immortal Cells Bank of Chinese Ethnic Groups has been supported by the National Natural Science Foundation of China and by the Ministry of Science and Technology of the People’s Republic of China.So far the cell bank includes a total of 6126 immortalized cell lines from 49 Chinese ethnic groups,which include more than 90 Chinese ethnic subgroups.As an important national strategic resource,the Chinese immortal cell bank and the nucleic acids derived from it provide research materials for the applied researches of genetic structural characteristics,gene variation,expression and function of the Chinese populations,demonstrating the progress in discoverying drug,vaccines and antibodies,and the application potential in stem cells research.In summary,the Immortal Cells Bank of Chinese Ethnic Groups has significantly promoted China’s international exchanges and cooperation on human genetic resources.With the development of advanced technologies such as high-throughput sequencing and gene editing,it will provide more resources and tools for human life science research and clinical translation applications.

关 键 词：人类遗传资源 中国不同民族 遗传多样性 永生细胞库 疾病基因 疫苗与药物 

分 类 号：Q987[生物学—遗传学]