第七章军遗传物质的变异与修复机制.pptx

第七章 遗传物质的变异及修复机制; 第一节 染色体畸变 Chromosome Aberration ; Polytene chromosome (多线染色体）;Types of changes in chromosome structure ;Mechanisms of change ;1. Deletion;The effects of deletions depend on their size;Genetic properties of deletions;2. Duplication;;3. Inversion;Origin of Inversion;An inversion can affect phenotype; Inversion reduce the frequency of crossing-over and recombination;;4. Translocation;罗伯逊式易位 ;Translocation homozygote is normal Translocation heterozygote form a crosslike configuration in meiosis;二、染色体数目的变异  Changes in Chromosome Number ;1. Euploid (整倍体 ) ;Monoploid organisms are usually infertile, but they are important in plant breeding.;Many polyploid plants are larger than their diploid counterparts;Allopolyploid 异源多倍体 Some allopolyploids have agriculturally desirable traits derived from two species;2. Aneuploid(非整倍体 ) ;Nondisjunction （不分离）in mitosis or meiosis is the cause of most aneuploids. ;Aneuploid and human diseases ; 第二节 基因突变  Gene mutation;二、突变的特点 (characteristics of mutation) 1. Random, but exists hot spots of mutation 5-methylcytosine 5-甲基胞嘧啶 ;2. Mutations are usually, but not always spontaneous Spontaneous mutation ;3. Mutation occurs at very low rate, the mutation rate varies among organisms and genes ;三、突变的检测  (detection of mutation);2. Detection in Drosophila（果蝇） CLB method C: an inversion L: a recessive lethal allele B: the dominant duplicated Bar eye gene ;四、突变的分子基础 (Molecular basis of mutation);② Spontaneous lesions (自发损伤) Depurination （脱嘌呤） ;2. Induced mutations 诱发突变;;;Intercalating agents （DNA插入剂） proflavin 原黄素 acridine orange 吖啶橙 ◇ Cause base pairs insertions or deletions ◇ Stabilize the loop formed during frameshift ;;五、动态突变与人类疾病 Dynamic mutation and human disease;The possible mechanism of trinucleotide repeat amplification（三核苷酸重复扩增） ;定点诱变;第三节 DNA的修复机制 Mechanisms o