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  • [正版]医学遗传学 MEDICAL GENETICS(英文版)(留学生与双语教学用) 夏米西努尔·伊力克 清华大学出版
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    • 作者: 夏米西努尔·伊力克著
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    • 作者: 夏米西努尔·伊力克著
    • 出版社:清华大学出版社
    • 开本:16开
    • ISBN:9783203503214
    • 版权提供:清华大学出版社

     书名:  医学遗传学  MEDICAL GENETICS(英文版)(留学生与双语教学用)
     出版社:  清华大学出版社
     出版日期  2021
     ISBN号:  9787302568841
    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、遗传病治疗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。

    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。

    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

    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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