中文摘要：

人类遗传多样性表现为世界各种族、民族和个体间存在的基因组差异,是探讨人类进化与迁徙、环境与遗传背景相互作用、疾病与健康影响因素的主要资源和工具。中国具有世界1/5的人口,有56个民族和丰富的遗传多样性资源。经过几十年的努力,中国人类遗传多样性研究已积累了丰富的资料,部分成果已经达到国际先进水平。文章重点论述了近年来形态学标记、生化及免疫学标记、DNA遗传标记在我国人类遗传多样性研究中的应用,线粒体DNA、Y染色体DNA和HLA标记在中国不同民族源流和相互关系、东亚现代人起源和迁移等研究中的应用,以及我国在中华民族遗传资源保存和利用、疾病易感基因和环境适应相关基因的鉴定及全基因组关联分析和第二代测序技术的应用、中国人基因组结构研究等方面取得的重要成果和进展。

英文摘要：

Human genetic diversity refers to genomic variation among races, ethnic groups, isolated populations and individuals worldwide, and is one major resource and tool on discovering human evolution and migration, interaction be- tween genetic background and environment, and factors associated with human diseases and health. China has abundant and valuable resource of human genetic diversity due to 56 ethnic groups and a large population accounting for one fifth of the total population in the world. After decades of efforts, a large number of research data on human genetic diversity have been accumulated in China, and some of outcomes reach advanced international level. This review mainly focuses on the recent progress and outcomes achieved in applying genetic markers including morphological markers, biochemical and immu- nological markers and DNA markers in research of genetic diversity, and the application of mitochondrial DNA, Y chro- mosomal DNA, HLA and others in research of the origin and relationship of Chinese ethic groups, and the origin and mi- grations of modern East Asian populations. This review also summarizes the advances in the research fields of preservation and utilization of Chinese genetic resource, identification of genes associated with disease selective and adaptive for natural pressure, application of whole genome association study and next generation sequencing, and Chinese human genome as well.