复旦大学上海医学院：《医学遗传学 Medical Genetics》课程PPT教学课件（英文）04基因突变的分子细胞生物学效应 cellular effects of gene mutation

1. Base(s) in DNA is (are) changed to other(s), or a base(s) is (are) added or removed. 2. Rearrangements of the chromosomes occur and are also considered

These entities encode information essential for the construction and regulation of proteins (such as enzymes) and other molecules that determine the growth and functioning of the organism

• Introduction • What is Medical Genetics? • Genetic disease • Role of Medical Genetics in Medical Education

◼ 前言 ◼ 遗传咨询的临床基础 ◼ 遗传病的再发风险率的估计 ◼ 遗传病的群体筛查 ◼ 遗传与优生

◼ 前言 ◼ 遗传病治疗的原则 ◼ 传统的遗传病的治疗方法 ◼ 基因治疗

◼ 前言 ◼ 遗传病的常规诊断 ◼ 分子诊断

◼ 前言 ◼ 出生缺陷的临床 ◼ 出生缺陷的病理生理学 ◼ 与出生缺陷相关的反应生物学

◼ 前言 ◼ 肿瘤发生的遗传现象 ◼ 癌基因 ◼ 肿瘤抑制基因 ◼ 肿瘤的多步骤发生和癌基因组解剖学计划

◼ 前言 ◼ 红细胞抗原遗传与新生儿溶血症