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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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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。 |
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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。 |
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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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