对微进化中遗传变异适应度的多群体联合估计：新方法及应用

项目名称： 对微进化中遗传变异适应度的多群体联合估计：新方法及应用

项目编号： No.91331109

项目类型： 重大研究计划

立项/批准年度： 2014

项目学科： 生物科学

项目作者： 何云刚

作者单位： 中国科学院上海生命科学研究院

项目金额： 100万元

中文摘要： 微进化指在自然选择压力和群体人口学事件影响下群体水平上基因频率随时间变化的过程。为适应不同自然环境，群体间可积累明显的遗传差异。尽管人群间差异大的位点被认为与对环境的适应有关，但缺乏对这些位点对不同环境的适应度差异的定量估计。为研究多群体的微进化规律，本项目将发展新的联合估计方法，用以同时估计关键遗传变异在不同人群的适应度及其差异。本研究拟利用基因组数据资源和计算硬件快速发展带来的外在优势，结合本课题组在群体遗传学参数估计方面的研究积累，将多群体多参数的复杂群体历史模型与统计计算模型结合，估计关键遗传变异在不同群体的适应度及其他相关群体历史参数。并运用新方法对“乳糖不耐受”和“地中海贫血”等经典进化案例中关键遗传改变进行深入研究。以期定量揭示进化作用力，阐明复杂表型变异的遗传机制，了解关键遗传改变随时间和环境变化的内在规律，丰富人群微进化有关的理论和认识。

中文关键词： 微进化；自然选择；定向选择；群体遗传学；基因组测序

英文摘要： Microevolution is the changes in allele frequencies that occur over time within a population. Human populations living at vast continental areas have significant genetic diversity caused by presence of the microevolution. Many genetic variants have been identified as critical factors contributing to adaptation of human being to the environment. However, fitness of the genetic variants was little investigated in quantitative approach for populations living at different geographic sites with different natural environments. In order to achieve a better understand to microevolution of human populations, this project will dedicate to develop a novel method that can be applied on sequencing data to jointly estimate fitness of critical genetic variant for multiple populations. The joint estimation will shed light on the studies of microevolution involving multiple human populations with complicate genetic history and various natural environments. Advantages of both accumulating genome sequencing data and developing computer technology will be taken in this project to help combine both the complicate population demographic model and sophistic computational statistic method to estimate fitness of the critical genetic variants. By using the novel method, further investigation will be conducted on classic loci related to l

英文关键词： Microevolution；Natural selection；Directional selection；Population genetics；Genome sequencing