基因组水平的插入和缺失变异研究进展_张阁.pdfVIP

第22 卷 第9 期 生命科学 Vol. 22, No. 9 20 10 年9 月 Chinese Bulletin of Life Sciences Sep ., 20 10 文章编号：1004-0374(2010)09-0896-05 基因组水平的插入和缺失变异研究进展 张　阁，黄　原* ( 陕西师范大学生命科学学院，西安 7 10062) 摘　要：插入和缺失(in sert ion and deletion )是DNA 和蛋白质在进化过程中发生的序列长度上的改变， 由于缺乏祖先序列的信息，不能肯定其到底是插入事件还是缺失事件，故统称之为增减(in del ) 。in del 是分子水平进化变异的主要来源之一，近年来对这种进化事件的研究已经涵盖了其发生频率、大小、 分布模式、序列进化模型及应用等各个方面。该文总结了基因组水平上插入和缺失的研究进展和发生机 制；介绍了已经提出的插入和缺失进化模型，包括TK F 9 1 、TK F 9 2 、“L on g I n d e l ”模型和序列环 境模型；讨论了插入和缺失作为分子标记在分子进化、基因分型和药物设计等方面的应用。 关键词：插入和缺失；增减；进化模型 中图分类号：Q 3 4 ；Q 7 5 　　文献标识码：A Advance in genome-wide studies on insertion and deletion variation ZHANG Ge, HUANG Yuan* (School of Life Sciences, Shaanxi Normal University, Xi’an 7 10062, China) Abstract: Insertion and deletion are evolutionary changes in sequence length of DNA and protein molecules. They can ’t be identified exactly whether it is an insertion event or a deletion event because of lack of ancestral sequence information, so be j ointly called indel. Indel is one of the maj or sources of evolutionary change at the molecular level. Recent researches about insertion and deletion covered many respects with their frequency, size, distribution pattern, evolutionary model, and application . This review first summarized the results of studies on insertion and deletion at genomic level and their generation mechanisms; then introduced the proposed evolu- tionary models for indel, including TKF9 1, TKF92, Long indel model, and sequence context model; finally, the application s of insertion and deletion variation in molecular evolution, genotyping, and drug design