正版 医学遗传学(留学生与双语教学用英文版普通高等教育双语教学

Contents
目 录



Chapter 1 Introduction 1
1.1 Genetics 1
1.2 Genetic Diseases 2
Summary 3
Exercises 3
Chapter 2 Mendels Laws of Inheritance 6
2.1 Gregor Mendel (1822-1884) 6
2.2 Mendels Experiments on Pea Plants 6
2.3 Relative Knowledge About Mendels Experiments 7
2.4 Mendels 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 Downs syndrome 148
References

教授、博士、硕导、教育部学位评审委员，自治区教学名师、新疆自然科学专家。新疆遗传学会副理事长，澳洲访问学者。主持9项课题。从事留学生教学19年。发表论60篇。编写教材共18部，包括1部全英文教材。

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。
编写该教材是中华医学会医学教育分会中国高等教育学会医学教育专业委员会医学教育研究课题，题目为：“全面提升新医大留学生医学遗传学教学环节”的一个重要内容，2018年，该教改项目被中华医学会医学教育分会中国高等教育学会医学教育专业委员会评为优秀结题项目三等奖。

《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。

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。