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| 书名 | 医学遗传学(第6版修订版英文影印版) |
| 分类 | 科学技术-医学-基础医学 |
| 作者 | (美)努斯鲍姆 |
| 出版社 | 北京大学医学出版社 |
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| 简介 | 编辑推荐 这是35年来最好的医学遗传学教材。本书第6版(修订版)仍延续其易读和易于理解的特点，将医学遗传学的基本原理展示给读者。将人类遗传学与现代分子遗传学的经典原理相结合，并阐述其在33种最常见的遗传性疾病的诊断和治疗中的临床应用是本版的一大特点，有助于读者将基础遗传学与临床遗传性疾病联系起来，也有助于授课教师将临床内容融人到教学中。同时，本书还全面介绍了遗传学领域的最新进展，包括发育缺陷、复杂疾病的遗传学、肿瘤遗传学、遗传学的分子和生化基础、人类基因组计划以及许多其他创新性的发现和进展。 美国医学会杂志(JAMA)强烈推荐本书，称其为“写得最好的遗传学教材”，本书也是国内多所高等院校研究生考试推荐的必读参考书。 内容推荐 本书将人类遗传学与现代分子遗传学的经典原理相结合，并阐述其在33种最常见的遗传性疾病的诊断和治疗中的临床应用是本版的一大特点，有助于读者将基础遗传学与临床遗传性疾病联系起来，也有助于授课教师将临床内容融人到教学中。同时，本书还全面介绍了遗传学领域的最新进展，包括发育缺陷、复杂疾病的遗传学、肿瘤遗传学、遗传学的分子和生化基础、人类基因组计划以及许多其他创新性的发现和进展。 目录 Chapter 1 Introduction The Role of Genetics in Medicine 1 Classification of Genetic Disorders 2 Onward 2 Chapter 2 Chromosomal Basis of Heredity The Human Chromosomes 5 The Life Cycle of a Somatic Cell 5 Meiosis 9 Human Gametogenesis and Fertilization 12 Medical Relevance of Mitosis and Meiosis 15 Chapter 3 The Human Genome: Structure and Function of Genes and Chromosomes DNA Structure: A Brief Review 17 The Central Dogma: DNA ~ RNA ~ Protein 18 Fundamentals of Gene Expression 22 Structure of Human Chromosomes 27 Organization of the Human Genome 30 Variation in Gene Expression and Its Relevance to Medicine 31 Chapter 4 Tools of Human Molecular Genetics ... Analysis of Individual DNA and RNA Sequences 33 Methods of Nucleic Acid Analysis 41 The Polymerase Chain Reaction 44 In Situ Hybridization to Chromosomes 46 DNA Sequence Analysis 48 Methods of Protein Analysis 49 Chapter 5 Patterns of Single-Gene Inheritance Terminology 51 Genetic Disorders with Classical Mendelian Inheritance 53 Autosomal Recessive Inheritance 56 Patterns of Autosomal Dominant Inheritance 61 X-linked Inheritance 65 Patterns of Pseudoautosomal Inheritance 71 Atypical Patterns of Inheritance 72 Summary 77 Chapter 6 Genetic Variation in Individuals: Mutation and Polymorphism Mutation 79 The Molecular Basis of Mutations and Their Detection 81 Human Genetic Diversity 87 Inherited Variation and Polymorphism in Proteins 87 Inherited Variation and Polymorphism in DNA 90 Uses of Polymorphisms in Medical Genetics 93 Chapter 7 Genetic Variation in Populations Genetic Diversity in Human Populations 95 Phenotypes, Genotypes, and Gene Frequencies 96 The Hardy-Weinberg Law 97 Frequency of X-Linked Genes and Genotypes 98 Factors That Disturb Hardy-Weinberg Equilibrium 99 Conclusion 108 Chapter 8 Gene Mapping and the Human Genome Project 1 Physical Mapping of Human Genes 111 Mapping Human Genes by Linkage Analysis 118 Applications of Human Gene Mapping 125 The Human Genome Project 132 Chapter 9 Principles of Clinical Cytogenetics Introduction to Cytogenetics 135 Chromosome Abnormalities 140 Parent-of-Origin Effects 151 Studies of Chromosomes in Human Meiosis 153 Mendelian Disorders with Cytogenetic Effects 153 Cytogenetic Analysis in Cancer 154 Chapter 10 Clinical Cytogenetics: Disorders of the Autosomes and the Sex Chromosomes Autosomal Disorders 157 The Sex Chromosomes and Their Abnormalities 165 Clinical Case Studies Illustrating Genetic Principles Chapter 11 Principles of Molecular Disease: Lessons from the Hemoglobinopathies The Effect of Mutation on Protein Function 181 How Mutations Disrupt the Formation of Biologically Normal Proteins 183 Hemoglobins and Their Diseases 184 Genetic Disorders of Hemoglobin 187 Conclusion 201 Chapter 12 The Molecular and Biochemical Basis of Genetic Disease Diseases Due to Mutations in Different Classes of Proteins 203 Enzyme Defects 206 Defects in Receptor Proteins 218 Transport Defects 222 Disorders of Structural Proteins 225 Neurodegenerative Disorders 234 Pharmacogenetic Diseases 249 Conclusion 253 Chapter 13 The Treatment of Genetic Disease 255 The Current State of Treatment of Genetic Disease 255 Special Considerations in Treating Genetic Disease 257 Treatment Strategies 258 Chapter 14 Genetics of the Immune System The Major Histocompatibility Complex 277 Immunoglobulins 281 The T-Cell Antigen Receptor 284 Single-Gene Disorders of the Immune System 285 Chapter 15 Genetics of Disorders with Complex Inheritance Genetic Analysis of Qualitative Disease Traits 289 Genetic Analysis of Quantitative Traits 293 Genetic Mapping of Complex Traits 297 Diseases with Complexlnheritance 299 Conclusion 309 Chapter 16 Genetics and Cancer Cancer Biology 311 Genetic Basis of Cancer 312 Oncogenes 313 Tumor-Suppressor Genes 320 Tumor Progression by Clonal Evolution Cancer and the Environment 331 Conclusion 332 Chapter 17 Genetic Aspects of Development ... (with the assistance of Gregory S. Barsh, MD, PhD.) Introduction to Developmental Biology 335 Genes in Development 336 Early Development: Fertilization to Gastrulation 339 Gene Expression During Development 341 Developmental Genetics in Clinical Practice 350 Recent Advances in Developmental Genetics and Potential Applications 355 Chapter 18 Prenatal Diagnosis Indications for Prenatal Diagnosis 359 Genetic Counseling for Prenatal Diagnosis 360 Methods of Prenatal Diagnosis 360 Emerging Technologies for Prenatal Diagnosis 368 Laboratory Studies 369 The Effect of Prenatal Diagnosis on the Prevention and Management of Genetic Disease 372 Conclusion 372 Chapter 19 Genetic Counseling and Risk Assessment Genetic Counseling 375 Case Management in Genetic Counseling Determining Recurrence Risks 379 Conclusion 388 Chapter 20 Genetics and Society Population Screening for Genetic Disease 391 Ethical Issues in Medical Genetics 393 Eugenic and Dysgenic Effects on Gene Frequencies 396 Conclusion 397 Glossary Answers to Problems Index |
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