我国人类基因组研究面临的机遇与挑战

CHINESE HUMAN GENOME PROJECT—OPPORTUNITY AND CHALLENGE

中国的人类基因组计划自１９９３年启动以来，已在各民族的遗传资源保存和遗传多态性研究、建立较完整的基因组研究技术、致病基因及其相关基因的ｃＤＮＡ克隆３个方面取得了显著成绩。与此同时，一支高层次研究人员队伍和一批研究基地已经形成。中国人类基因组计划下一阶段的任务是：根据中国的国情和优势：（１）继续扩大中华民族基因资源库（包括ＤＮＡ和永生细胞株库），并开展微卫星和单核苷酸多态性研究与基因分型工作；（２）发展疾病基因组学，做好疾病遗传资源的调查、登记、采集和保存，形成现代化管理的样品库和数据库，并争取在肿瘤、遗传病和多基因病相关基因的定位、克隆，突变检测与大规模测序方面有所突破，获得一批重要的疾病基因；（３）启动以生物信息学、基因转录和翻译表达谱测定为主的功能基因组学研究，并以疾病基因组为研究基因组功能的重点；（４）加强与基因组科学有关的伦理。

The Chinese Human Genome Project (HGP) started in 1993 and has since made substantial progress in 3 major aspects: the genome resource conservation and genetic polymorphism studies of multiple Chinese nationalities; the development of an advanced technological system for genome research; the cloning of some diseaserelated genes and a large number of expressed sequence tags (ESTs). At the same time a qualified research team has been formed and some centers for genome studies have been founded in the country. The major tasks in the next phase of the project are:(1) Further expanding the genetic material conservation scope including collection of more DNA samples and establishment of more immortilized cell lines;(2) Developing morbid genomics which includes epidemiological survey and registration, collection, maintenance and banking of the data and genetic material resource; making significant progress in mapping, cloning, mutation screening, and largescale sequencing of the genes related to tumors, inheritable diseases and particularly multigenic diseases in the hope that a number of genes for important diseases will be obtained;(3)Initiation of the functional genomics which includes studies on bioinformatics, expression spectrum of transcription and translation of the genome in physiological and pathological processes;(4) Enhancing the studies on the ethical, legal and social issues related to human genome sciences.