简介
《医学遗传学（医学教育改革系列教材）》由丁卫 、叶海虹编*，本教材为“医学教育改革系列教材” （英文）之一，包括12章，前两章介绍医学遗传学的 历史以及遗传的分子基础，为学生奠定人类疾病的遗 传学机制；接下来介绍4种经典的遗传病，即染色体 病、单基因病、多基因病和体细胞遗传病；群体遗传 学介绍影响遗传病发病率和人类进化的因素；*后介 绍人类遗传疾病的诊断、干预和管理。本套教材主要 面向在我国接受医学教育的海外留学生和接受双语教 学的本科生。
目录
Chapter 1 Overview of Genetics
1.1 Role of Genetics in Medicine
1.2 Brief History
1.3 Classification of Genetic Disorders
1.4 Future of Medical Genetics
Chapter 2 Molecular Basis of Heredity
2.1 DNA Structure and Replication
2.2 Organization of Human Genome
2.3 Gene Expression
2.4 Mutation and Polymorphism
Chapter 3 Chromosomal Basis of Heredity
3.1 Characteristics of Human Chromatin and Chromosomes
3.2 Sex Determination
3.3 Variation in Chromosome Number
3.4 Variation in Chromosome Structure
3.5 Disorders of Autosomes and the Sex Chromosome
Chapter 4 Single-gene Disorders
4.1 Pedigree and Pedigree Analysis
4.2 Autosomal Dominant Disease
4.3 Autosomal Recessive Disease
4.4 X-Iinked Dominant Genetic Disease
4.5 X-1inked Recessive Genetic Disease
4.6 Y-Iinked Genetic Disease
4.7 Influencing Factors in the Analysis of Single-gene Disorders
Chapter 5 Mitochondrial Inherited Disorders
5.1 Structure, Function and Inheritance of Mitochondria
5.2 Mitochondrial DNA Mutations and Common Mitochondrial Diseases
Chapter 6 Multifactorial Genetic Disorders
6.1 Characteristics of Multifactorial Traits
6.2 Inheritance of Multifactorial （Complex） Disorders
6.3 Factors Affecting Estimation of Recurrence Risk for Multifactorial Disorders
Chapter 7 Human Biochemical Disorders
7.1 Hemoglobinopathy
7.2 Hemophilia
7.3 Collagen Diseases
7.4 Receptor Protein Disease
7.5 Enzyme Protein Disease
Chapter 8 Population Genetics
8.1 Population Genetic Equilibrium
8.2 Factors Affecting Population Genetic Equilibrium
8.3 Genetic Load
Chapter 9 Tumor Genetics
9.1 Chromosomal Aberration and Tumors
9.2 Oncogene
9.3 Tumor Suppressor Gene
9.4 Genetic Mechanisms of Tumorigenesis
9.5 Hereditary Malignant Tumors
Chapter 10 Diagnosis of Genetic Disorders
10.1 Symptomatic Diagnosis
10.2 Presymptomatic Diagnosis
10.3 Prenatal Diagnosis
Chapter 11 Therapy of Hereditary Disease
11.1 General Principles and Concerns
11.2 Surgical, Pharmacological and Dietary Therapy
11.3 Gene Therapy
Chapter 12 Prevention of Genetic Disorders
12.1 Genetic Screening
12.2 Genetic Counseling
12.3 Genetic Register
Medical Genetics
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