本书用于医科大学外国留学生医学教学教材和《医科大学研究生参考书目》，同时也为国立医科大学相关专业的外国留学生和临床医生提供。

《医学遗传学》根据医学专业来华留学生教学大纲的要求，阐述医学遗传学学科的发展史和基础理论、基本方法，详述遗传病的分类，包括单基因遗传病、线粒体遗传病、多基因遗传病、染色体病等相关知识，以及分子病和先天性代谢病等生化遗传学内容、遗传病的诊断和治疗相关内容等。
《医学遗传学》在每章提示重点学习内容，章后提供小结及配套名词解释、填空题、判断题、选择题等复习题及相关答案，便于学生自学。
《医学遗传学》含本门课程的实验指导部分，包括人类染色体的制备、人类G显带核型分析、唐氏综合征的核型分析、系谱分析及人类皮纹分析等内容。
《医学遗传学》供医学专业来华留学生及本科生双语教学使用。

Chapter 1 Introduction
1.1 Genetics
1.2 Genetic Diseases
Summary
Exercises
Chapter 2 Mendel's Laws of Inheritance
2.1 Gregor Mendel （1822-1884）
2.2 Mendel's Experiments on Pea Plants
2.3 Relative Knowledge About Mendel's Experiments
2.4 Mendel's Laws
Summary
Exercises
Chapter 3 The Bases of Genetics
3.1 Molecular Structure of a Gene
3.2 DNA Sequences
3.3 Regulahon of Gene Expression
3.4 Genetic Imprinting
3.5 Mutation
3.6 Somatic and Germline Mutation
3.7 "Loss of Funchon Mutahon" and "Gain of Function Mutahon"
3.8 Molecular Basis of Gene Mutahon （Point Mutation）
3.9 Mutagens
Summary
Exercises
Chapter 4 Inheritance Pattern of Single Gene Disorders （Monogenic Inheritance）
4.1 Monogenic Inheritance （Mendelian）
4.2 Pedigree Chart
4.3 Autosomal Dominant Inheritance （AD）
4.4 Case Study
4.5 Comment
4.6 Autosomal Recessive Inheritance（AR）
4.7 Sex-linked Inheritance
Summary
Exercises
Chapter 5 Mitochondrial Disorders
5.1 Unusual Forms of Inheritance-Matrilineal Inheritance
5.2 mtDNA
5.3 Mutation of Mitochondrial Gene
5.4 mtDNA Disorders
Summary
Exercises
Chapter 6 Polygenic or Multifactorial Inheritance
6.1 Polygenic Inheritance of Quantitative Traits
6.2 Characteristics of Polygenic Diseases
6.3 Polygenic Inheritance of Disease
6.4 Estimation of Recurrence Risks of Polygenic Diseases
Summary
Exercises
Chapter 7 Human Chromosomes
7.1 Human Chromosomes
7.2 Structure of Chromosomes
7.3 Classification of Chromosomes
7.4 Chromosome Analysis
7.5 X chromatin and Lyon Hypothesis
7.6 Telomere and Cancer
Summary
Exercises
……
Chapter 8 Chromosomal Disorders
Chapter 9 Biochemical Genetics
Chapter 10 Diagnosis of Genetic Diseases
Chapter 11 Treatment of Genetic Diseases
Overall Review of Medical Genetics
Model Test
Standard Answer
Experimental Guidance of Medical Genetics
References