染色体畸变（chromosome aberration）是体细胞或生殖细胞内染 色体发生的异常改变。畸变的类型和可能引起的后果在细胞不同周期 和个体发育不同阶段不尽相同。 染色体畸变可分为数目畸变和结构畸变两大类，其中染色体的数 目畸变又可分为整倍性改变和非整倍性改变两种。结构畸变主要有缺 失、重复、插入、易位和倒位等；

一、前言 二、染色体畸变发生的原因 三、染色体数目异常及其产生的机制 四、染色体结构畸形及其产生的机制

一、单基因病的概念 二、系谱常用符号及系谱分析 三、各种单基因病的系谱特征 四、AD的各种类型 五、影响单基因病发病风险的因素 六、单基因病发病风险的估计

Medical genetics 2. Inborn errors of metabolism Inborn errors of metabolism are are genetic disorders in which the body cannot turn food into energy (metabolize food) normally. The disorders are usually caused by defects in the enzymes involved in the biochemical pathways that break down food components

第一节 染色体 第二节 染色体畸变 一、 染色体结构改变 二、 染色体数目改变 第三节 细胞分裂

The Science of Genetics Cellular Reproduction Mendelism: The Basic Principles of Inheritance CHAPTER 4 Extensions of Mendelism The Chromosomal Basis of Mendelism Variation in Chromosome Number and Structure Linkage, Crossing Over, and Chromosome Mapping in Eukaryotes The Genetics of Bacteria and Their Viruses DNA and the Molecular Structure of Chromosomes Replication of DNA and Chromosomes Translation and the Genetic Code Mutation, DNA Repair, and Recombination The Techniques of Molecular Genetics Genomics Applications of Molecular Genetics Transposable Genetic Elements Regulation of Gene Expression in Prokaryotes Regulation of Gene Expression in Eukaryotes The Genetic Control of Animal Development The Genetic Basis of Cancer Inheritance of Complex Traits Population Genetics Evolutionary Genetics Transcription and RNA Processing

基因定位 gene location 连锁分析(linkage analysis) 体细胞杂交法（somatic cell hybridization） 克隆嵌板法（clone panel method） 原位杂交（in situ hybridization） 荧光原位杂交（florescence in-situ hybridization,FISH） 基因定位的应用 人类基因组计划

2. Inborn Errors of Metabolism Inborn errors of metabolism are rare genetic disorders in which the body cannot turn food into energy (metabolize food) normally. The disorders are usually caused by defects in the enzymes involved in the biochemical pathways that break down food components

◼ Introduction of the basic concepts 2. What Causes Cancer? ◼ Genetic underpinnings of cancer ◼ Three types of Cancer Critical Genes ◼ Cancer initiation and progression 3. How to Prevent and Diagnose Cancer? ◼ Utilization the knowledge we learned from cancer genetics Outline

◼ 前言 ◼ 染色体的发病概况 ◼ 常染色体病 ◼ Down综合征 ◼ 性染色体病 ◼ 染色体异常携带者