第一节 细胞的结构和功能 第二节 染色体的形态和数目 第三节 细胞的有丝分裂 第四节 细胞 的减数分裂 第五节 配子的形成和受精 第六节 生活周期

Some disorders result when a mutation causes the product of a single gene to be altered or missing. These disorders are inherited in simple patterns similar to or identical with those described by Mendel for certain discrete characteristics in garden peas. Therefore, it’s also called Mendelian diseases

肿瘤是细胞异常增殖所形成的细胞群。肿瘤形成后可在原位继续 生长，也可转移进入其它组织器官，而侵袭到其他部位肿瘤的恶性程 度较高。肿瘤细胞持续生长将出现严重的组织损伤和器官衰竭，最后 导致死亡。目前已发现的 200 多种恶性肿瘤几乎涉及了所有类型的细 胞、组织及器官系统

出生缺陷（birth defect）也称为先天畸形（congenital malformation）， 是患儿在出生时即在外形或体内所形成的（非分娩损伤所引起的）可 识别的结构或功能缺陷。出生缺陷的发生原因比较复杂，有些与遗传 因素有关；

Medical Genetics The normal 46 chromosomes in our body are contained in the center of the cell, which is called the nucleus. Mitochondria are structures in the cell located outside of the nucleus in the cytoplasm, that also contain genes that are separate from the ones in the nucleus

几乎每个人体细胞中都含有数以百计的线粒体，每个线粒体内膜 上富含 5 种具有传递电子功能的酶复合体，组成呼吸链-氧化磷酸化系 统，将代谢过程中产生的电子通过连锁反应逐步传递给氧并将质子从 线粒体基质转移到膜间腔，形成跨内膜的质子梯度，复合物Ⅴ（ATP 合酶）利用质子顺浓度回流到基质中所产生的势能，使 ADP 磷酸化 生成 ATP，为细胞提供进行各种生命活动所需要的能量

Medical Genetics Genetic diseases and congenital malformations occur in approximately 2 to 5 of all live births, account for up to 30% of paediatric admissions to hospital, and are an important cause of death under the age of 15 years

实验一 人类体细胞染色体标本制备与核型分析 Metaphase Chromosome Preparation and Analysis of Karyotype 实验二 X和Y染色质标本的制作与观察 X and Y Chromatin Preparation and Observation 实验三 姊妹染色单体交换实验 Sister Chromosome Exchange （SCE） 实验四 银染核仁形成区与近端着丝粒染色体随体联合 AgNO3 Staining NOR and Satellite Association of Acrocentric Chromosome 实验五 核酸提取 The Extraction of Nucleic Acid 实验六 DNA重组技术 Recombinant DNA 实验七 PCR－RFLP分析技术 Polymerase Chain Reaction –Restriction Fragment Length Polymorphism 实验八 PCR-SSCP Polymerase Chain Reaction-Single Strand Conformation Polymorphism 实验九 PCR-DGGE Polymerase Chain Reaction-Denaturing Gradient Gel Electrophoresis 实验十 PCR-DHPLC Polymerase Chain Reaction-Denatured High Performance Liquid Chromatography

1. What is gene therapy? 2. How does gene therapy work? 3. The current status of gene therapy research 4. Factors kept gene therapy effective 5. Some recent developments 6. Some of the ethical considerations

◼ 前言 ◼ 先天性代谢缺陷的共同规律 ◼ 糖代谢疾病 ◼ 氨基酸代谢疾病 ◼ 核酸代谢疾病