中国人类遗传多样性的研究进展.pdfVIP

HEREDITAS (Beijing) 2012 11 , 34(11): 1351―1364 ISSN 0253-9772 综 述 DOI: 10.3724/SP.J.1005.2012.01351 中国人类遗传多样性研究进展 杨昭庆, 嘉 禇 祐 , , 650118 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。 人类遗传多样性; 遗传标记; 基因组; 易感基因; 中华民族 The research progress of human genetic diversity in China YANG Zhao-Qing, CHU Jia-You Department of Medical Genetics , Institute of Medical Biology , Chinese Academy of Medical Sciences Peking Union Medical College, Kunming 650118, China Abstract: 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