本书共分14个部分，其中包括11章，包括绪论、孟德尔遗传定律、遗传学基础、单基因病、线粒体病、多因子遗传、人类染色体、染色体疾病、生物化学遗传学、遗传病诊断、遗传病**以及医学遗传学总复习、模拟试题、《医学遗传学实验指导》和《医学遗传学实验报告》。每一章包括教学目的、教学要求、要点、内容、名词解释、填空、判断、选择题、简答题及其答案。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。

Chapter 1 Introduction 1 1.1 Genetics 1 1.2 Genetic Diseases 2 Summary 3 Exercises 3 Chapter 2 Mendel’s Laws of Inheritance 6 2.1 Gregor Mendel (1822-1884) 6 2.2 Mendel’s Experiments on Pea Plants 6 2.3 Relative Knowledge About Mendel’s Experiments 7 2.4 Mendel’s Laws 11 Summary 11 Exercises 11 Chapter 3 The Bases of Genetics 12 3.1 Molecular Structure of a Gene 12 3.2 DNA Sequences 13 3.3 Regulation of Gene Expression 14 3.4 Genetic Imprinting 14 3.5 Mutation 14 3.6 Somatic and Germline Mutation 15 3.7 “Loss of Function Mutation” and “Gain of Function Mutation” 15 3.8 Molecular Basis of Gene Mutation (Point Mutation) 15 3.9 Mutagens 16 Summary 17 Exercises 17 Chapter 4 Inheritance Pattern of Single Gene Disorders (Monogenic Inheritance) 20 4.1 Monogenic Inheritance (Mendelian) 20 4.2 Pedigree Chart 20 4.3 Autosomal Dominant Inheritance (AD) 21 4.4 Case Study 27 4.5 Comment 27 4.6 Autosomal Recessive Inheritance (AR) 28 4.7 Sex-linked Inheritance 29 Summary 34 Exercises 34 Chapter 5 Mitochondrial Disorders 39 5.1 Unusual Forms of Inheritance—Matrilineal Inheritance 39 5.2 mtDNA 39 5.3 Mutation of Mitochondrial Gene 40 5.4 mtDNA Disorders 40 Summary 41 Exercises 41 Chapter 6 Polygenic or Multifactorial Inheritance 44 6.1 Polygenic Inheritance of Quantitative Traits 44 6.2 Characteristics of Polygenic Diseases 47 6.3 Polygenic Inheritance of Disease 47 6.4 Estimation of Recurrence Risks of Polygenic Diseases 48 Summary 50 Exercises 51 Chapter 7 Human Chromosomes 53 7.1 Human Chromosomes 53 7.2 Structure of Chromosomes 54 7.3 Classification of Chromosomes 55 7.4 Chromosome Analysis 57 7.5 X chromatin and Lyon Hypothesis 58 7.6 Telomere and Cancer 60 Summary 60 Exercises 60 Chapter 8 Chromosomal Disorders 63 8.1 Disorders of Chromosome Number 63 8.2 Further Details 64 8.3 Karyotype Symbols 66 8.4 Numerical Abnormalities of Autosomes 69 8.5 Numerical Abnormalities of Sex Chromosomes 72 Summary 75 Exercises 76 Chapter 9 Biochemical Genetics 83 Biochemical Genetics 83 9.1 Molecular Diseases 83 9.2 The Molecular Structures of Hemoglobin 84 9.3 Globin Chain Structure 85 9.4 Types of Globins Gene Mutations 86 9.5 Common Hemoglobin Diseases 87 9.6 Thalassaemias 89 9.7 β-Thalassaemia 90 9.8 δβ Thalassaemia 91 Summary 91 Biochemical Genetics 92 9.9 Hereditary Enzymopathy/Inborn Errors of Metabolism (IEM) 92 9.10 Hereditary Enzymopathy 92 9.11 Some Common Inborn Errors of Metabolism 94 Summary 98 Exercises 99 Chapter 10 Diagnosis of Genetic Diseases 100 10.1 Symptomatic Diagnosis 100 10.2 Presymptomatic Diagnosis 102 10.3 Prenatal Diagnosis 102 10.4 Carrier Tests 105 10.5 Genetic Counseling in Disputed Paternity 105 10.6 Consanguineous Marriage and Genetic Counseling 105 10.7 Adoption and Genetic Counseling 105 Summary 106 Exercises 106 Chapter 11 Treatment of Genetic Diseases 109 11.1 Prenatal treatment 109 11.2 Postnatal Treatment 109 11.3 The First Gene Therapy 112 Summary 113 Exercises 113 Overall Review of Medical Genetics 115 Model Test 123 Model Test Paper of Medical Genetias of Xingjiang Medical University 123 Standard Answer 127 Some of the Standard Answers of “Overall Review of Medical Genetics” 133 Some of the Answers of the Model Test Paper of Medical Genetics of Xinjiang Medical University 133 Experimental Guidance of Medical Genetics 133 Section A Preparation of Human Chromosome Spreads 135 Section B Karyotype Analysis of Human G-banding Chromosomes 137 Section C Pedigree Analysis 142 Section D Analysis of Human Finger Print 144 Section E Karyotye Analysis of Down’s syndrome 148 References