- 医学遗传学(来华留学生英文授课精编教材)(英文版)
- - 作者：编者:邵根宝//金洁//龚爱华|责编:宋燕敏
  - 出版社：江苏大学
  - ISBN：9787568417778
  - 出版日期：2023/12/01
  - 页数：264
- 售价：38

内容大纲
本书以“遗传病”作为主线，介绍了医学遗传学的发展、前沿和展望，经典的遗传和表观遗传方式及其相关疾病，从微观层面探究基因和染色体的结构、突变及相关的检测技术，以临床常见的遗传病例作为主体，介绍其主流诊断、治疗技术和方法。医学遗传学是医学与遗传学相结合的一门边缘学科，是遗传学知识在医学领域中的应用。书稿中的医学遗传学理论和实践丰富和发展了遗传学。在广泛吸收和借鉴同类教材的基础上，书稿较为全面和系统地介绍了医学遗传学的理论与实践。
作者介绍
目录
CHAPTER 1  Introduction
  1.1  The Birth and Development of Genetics and Genomics
  1.2  Categories of Genetic Disease
  1.3  Onward
CHAPTER 2  Chromosomal Basis Heredity
  2.1  The Human Genome and the Chromosomal Basis of Heredity
  2.2  Transmission of the Genome
  2.3  Human Gametogenesis and Fertilization
  2.4  The Human Kaxyotype
  2.5  Medical Relevance of Mitosis and Meiosis
CHAPTER 3  Patterns of Single-Gene Inheritance
  3.1  Overview and Concepts
  3.2  Pedigrees
  3.3  Mendelian Inheritance
  3.4  Autosomal Patterns of Mendelian Inheritance
  3.5  X-Linked Inheritance
  3.6  Pseudoautosomal Inheritance
  3.7  Mosaicism
  3.8  Parent-of-Origin Effects on Inheritance Patterns
  3.9  Dynamic Mutations: Unstable Repeat Expansions
  3.10  Correlating Genotype and Phenotype
  3.11  Importance of the Family History in Medical Practice
CHAPTER 4  Principle of Clinical Cytogenetics
  4.1  Introduction to Cytogenetics and Genome Analysis
  4.2  Chromosome Abnormalities
  4.3  Chromosome and Genome Analysis in Cancer
CHAPTER 5  Chromosome Disease
  5.1  Mechanisms of Abnormalities
  5.2  Aneuploidy
  5.3  Idiopathic Chromosome Abnormalities
  5.4  The Sex Chromosomes and Their Abnormalities
CHAPTER 6  Multiple-Factor Inheritance
  6.1  Qualitative and Quantitative Traits
  6.2  Familial Aggregation and Correlation
  6.3  Determining the Relative Contributions of Genes and Environment to Complex Disease
  6.4  Examples of Common Multifactorial Diseases With a Genetic Contribution
  6.5  Examples of Multifactorial Traits for Which Specific Genetic and Environmental Factors are Known
  6.6  The Challenge of Multifactorial Disease With Complex Inheritance
CHAPTER 7  Epigenetics
  7.1  Epigenetic and Epigenomic Aspects of Gene Expression
  7.2  Gene Expression as the Integration of Genomic and Epigenomic Signals
  7.3  Allelic Imbalance in Gene Expression
  7.4  Variation in Gene Expression and Its Relevance to Medicine
CHAPTER 8  Genetics of Cancer
  8.1  Neoplasia
  8.2  Genetic Basis of Cancer
  8.3  Cancer in Families
  8.4  Familial Occurrence of Cancer
  8.5  Sporadic Cancer
  8.6  Cytogenetic Changes in Cancer

  8.7  Applying Genomics to Individualize Cancer Therapy
CHAPTER 9  Genetic Variation in Individuals and Populations: Mutation and Polymorphism
  9.1  The Nature of Genetic Variation
  9.2  Inherited Variation and Polymorphism in DNA
  9.3  The Origin and Frequency of Different Types of Mutations
  9.4  Types of Mutations and Their Consequences
  9.5  Variation in Individual Genomes
  9.6  Impact of Mutation and Polymorphism
  9.7  Genotypes and Phenotypes in Populations
  9.8  Factors That Disturb Hardy-Weinberg Equilibrium
CHAPTER 10  The Treatment of Genetic Disease
  10.1  The Current State of Treatment of Genetic Disease
  10.2  Special Considerations in Treating Genetic Disease
  10.3  Treatment by the Manipulation of Metabolism
  10.4  Treatment to Increase the Function of the Affected Gene or Protein
  10.5  Gene Therapy
  10.6  Precision Medicine : the Present and Future of the Treatment of Mendelian Disease
CHAPTER 11  Genetic Counseling and Risk Assessment
  11.1  Family History in Risk Assessment
  11.2  Genetic Counseling in Clinical Practice
  11.3  Determining Recurrence Risks
  11.4  Empirical Recurrence Risks
REFERENCES

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