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
內容試閱：
Medical Genetics is a subject to study the medicine by using genetics knowledge. The subject studies the mechanism of genetic diseases， methods of inheritance， roles of developing that and provides the scientific evidence for controlling genetic diseases in the case of improving human genetic qualities.
During the medical education， Medical Genetics has a tight connection with basic subjects， including Medical Cell Biology， Biochemistry， Physiology， Immunology， Pathology， Embryology， Clinicol Medicine Pharmacy and Social Medicine.
This text book is a teaching material of medical teaching planning for foreign students in Chinese. Medical Universities and a references book for postgraduate students， and it is also provided for foreign students from relative majors and for clinic doctors in other mdical universities nationwide.
We will introduce the book from the following acpects:
This book includes 11chapters and 4 parts， The chapters includes introduction， Mendel’s law of inheritance， the bases of genetics， monogenic diseases， mitochondrial disorders， multifactorial inheritance， human chromosomes， chromosome disorders， biochemi genetics， diagnosis of genetic diseases， treatment of a genetic diseases; The A Parts are overall review of medical genetics， model test， standard answer and experimental guide of medical genetics.
i For studying well teaching material， each chapter of the book provides teaching purposes， teaching requirements and teaching contents for the students according to the syllabus of Medical Genetics of Xinjiang Medical University. Teaching requirements are divided into three levels they are mastery， familiarity and understanding. Teaching contents are coordinated with the teaching requirements.
ii At the end of each chapter， we offerd a summary for students to review of the chapter knowledge.
iii Each chapter also provided different forms of exercises， which include key terms， fill in the blank， true or false and MCQs The total sum of exerises are more than 500. Suggested answers are attached.
iv Overall review is provided at the end of 11 chapters.
v In order to let students understand the pattern of written exams of Medical Genetics in Xinjiang Medical University， one model test is given at the end of the book.
vi Experimental guides are also given， as well as experimental reports included in this part.
We hope that this text book will meet your needs for the basic of the Medical Genetics curriculum， and we welcome and appreciate your comments， which will help us refine the reprint for future students. thank you!
Xiamixinuer?Yilike
Professor of Department of Biology
College of Basic Medical Sciences
Xinjiang Medical University
November 30， 2020
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