• The emerging development in pathology • The common gene variations in molecular diagnostic • The frequently-used techniques in molecular diagnostics • The common biomarkers for cancer diagnostic

复旦大学：《分子生物学理论与实验》课程教学课件（讲稿）应用篇 第二章 基因诊断 Gene Diagnosis

Cell signaling can affect virtually every aspect of cell structure and function: Activation of enzyme activity;  Change in cytoskeletal organization;  Change in ion permeability;  Initiation of DNA synthesis;  Activation or repression of gene expression

• 定义：两个或两个以上的群体通过遗传物质的交流成为一个群体 • 机制： – 群体的即时混合（instantaneous hybridization, IH) – 群体间连续的基因交流（continuous gene flow, CGF) • 结果：混合前的祖先群体在遗传上差异显著 – 混合群体在等位基因频率上不同于祖先人群 – 混合群体在连锁不平衡上不同于祖先人群 • 群体混合与个体混合

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

1.Genes can be mutated in many ways 2. Somatic versus germline mutations 3. Types of mutation effects

1. Mutagens or Mutagenic Agents 2. Mechanism of Mutation 3. Result of mutation 4.functional effects of the change. 5.Genetic Effects of mutation 6. Repair of Mutation

1.Genes can be mutated in many ways 2. Somatic versus germline mutations 3. Types of mutation effects

复旦大学：《医学遗传学 Medical Genetics》课程教学资源（课件讲稿）Single gene disorder_Alexander Endler

复旦大学：《药物设计学》课程教学资源（教学研究）靶向药物设计_Choline-Derivate-Modifi ed Nanoparticles for Brain-Targeting Gene Delivery