打印稿 突变.pptx

第七章 遗传物质的变异及修复机制 Molecular mechanism of mutation and DNA repair Chromosome Aberration（染色体畸变） Changes in Chromosome Structure Changes in Chromosome Number Gene Mutation 第一节 染色体畸变 Chromosome Aberration 一、染色体结构变异 Changes in Chromosome Structure Sometimes chromosome mutation can be detected by microscopic observation Polytene chromosome (多线染色体） A giant chromosome consisting of many identical chromatids lying in parallel register Found in the nuclei of the salivary gland（唾腺） and certain other tissues of the larvae（幼虫） of Drosophila and other two-winged flies The polytene structures are formed by repeated replication of the DNA (1000~5000), but without separation of the replicated chromatin strands in a mitotic process  Types of changes in chromosome structure Deletion 缺失 Duplication 重复 Inversion 倒位 Translocation 易位 Mechanisms of change Chromosome rearrangements can arise through physical breakage(断裂)and rejoining(重接) of the DNA molecule Such processes can either occur spontaneously or be induced by treatment with high-energy radiation such as X or γ radiation 1. Deletion A deletion is a lost portion of a chromosome Terminal deletion 末端缺失 Interstitial deletion 中间缺失 The effects of deletions depend on their size Small deletion within a gene inactivates the gene Large deletion affect more adjacent genes Deletion homozygote(纯合体) is often lethal Deletion heterozygote (杂合体) is often harmful Heterozygous for a multigenic deletion may not survive Deletion heterozygote forms deletion loop during meiotic division Genetic properties of deletions The failure of the chromosome to survive as a homozygote Can not revert to a normal condition Uncover recessive alleles (pseudodominance 假显性 ) Using deletion to locate genes 2. Duplication A duplication is a repeated part of the genetic material 串联重复(tandem duplication) 非串联重复(nontandem duplication) Most duplications have