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

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

Part I. Genetics of the Hemoglobinopathies Developmental Expression of Globin Genes and Globin Switching Part II. Newborn Screening for the Hemoglobinopathies Population-Based Screening Principles of Newborn Screening (NBS) NBS for the Hemoglobinopathies

第一节 一对相对性状的杂交实验 第二节 性状分离现象的解释 第三节 分离规律的验证 第四节 定律的扩展 4.1 孟德尔定律实现的条件 4.2 显性的相对性 4.3 致死基因 4.4 复等位基因 第五节 分离规律的意义与应用