比较基因组学在生物进化研究中的应用
Applications of Comparative Genomics in Evolutionary Biology
DOI: 10.12677/bp.2026.163013, PDF,    科研立项经费支持
作者: 徐玉林：峨眉山世界文化和自然遗产研究院，四川 乐山；李志强：峨眉山林业所，四川 乐山；陈俐洁, 蔡 颖*：乐山市林业科学研究院，四川 乐山；陈 兵：乐山市林业局，四川 乐山；王 璐*：乐山师范学院生命科学学院，西南山地濒危鸟类保护四川省高等学校重点实验室，四川 乐山
关键词: 基因组学；比较基因组学；基因组测序；基因组组装；系统发育；适应性进化；Genomics； Comparative Genomics； Genome Sequencing； Genome Assembly； Phylogeny； Adaptive Evolution
摘要: 生物进化研究长期关注物种起源、系统发育关系、演化历史及适应性性状形成机制。基因组学的发展使研究者能够从全基因组水平解析物种分化和性状演化的分子基础。随着高通量测序、长读长测序、Hi-C和光学图谱等技术不断成熟，大量动植物基因组被测序、组装和注释，为比较基因组学和进化基因组学研究提供了重要数据支撑。通过基因组测序、组装、注释及同源基因家族分析，可揭示物种间基因组成、结构变异、基因家族扩张与收缩等差异；基于全基因组数据构建系统发育关系，有助于提高物种演化关系推断的可靠性；结合选择压力分析，还可筛选与环境适应和表型演化相关的候选基因。本文概述基因组测序技术的发展、基因组组装与注释方法，并总结其在系统发育重建、同源基因家族分析和适应性进化研究中的应用，以期为生物进化机制研究提供参考。
Abstract: Research on biological evolution has long focused on species origins, phylogenetic relationships, evolutionary history, and the mechanisms underlying the formation of adaptive traits. The development of genomics has enabled researchers to investigate the molecular basis of species divergence and trait evolution at the whole-genome level. With the continuous advancement of high-throughput sequencing, long-read sequencing, Hi-C, optical mapping, and other technologies, the genomes of numerous animals and plants have been sequenced, assembled, and annotated, providing important data support for comparative genomics and evolutionary genomics studies. Through genome sequencing, assembly, annotation, and homologous gene family analysis, differences among species in gene composition, structural variation, gene family expansion, and gene family contraction can be revealed. Phylogenetic reconstruction based on whole-genome data helps improve the reliability of inferences regarding evolutionary relationships among species. In combination with selection pressure analysis, candidate genes associated with environmental adaptation and phenotypic evolution can also be identified. This paper reviews the development of genome sequencing technologies, genome assembly and annotation methods, and summarizes their applications in phylogenetic reconstruction, homologous gene family analysis, and adaptive evolution research, with the aim of providing a reference for studies on the mechanisms of biological evolution.
文章引用：徐玉林, 李志强, 陈俐洁, 陈兵, 蔡颖, 王璐. 比较基因组学在生物进化研究中的应用[J]. 生物过程, 2026, 16(3): 110-119. https://doi.org/10.12677/bp.2026.163013

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