医学遗传学（第6版修订版）（英文影印版）

　　Chapter
　　Introduction
　　The Role of Genetics in Medicine
　　Classification of Genetic Disorde
　　Onward
　　Chapter
　　Chromosomal Basis of Heredity
　　The Human Chromosomes
　　The Life Cycle of a Somatic Cell
　　Meiosis
　　Human Gametogenesis and Fertilization
　　Medical Relevance of Mitosis
　　and Meiosis
　　Chapter
　　The Human Genome: Structure
　　and Function of Genes and
　　Chromosomes
　　DNA Structure: A Brief Review
　　The Central Dogma:
　　DNA ~ RNA ~ Protein
　　Fundamentals of Gene Expression
　　Structure of Human Chromosomes
　　Organization of the Human Genome
　　Variation in Gene Expression and Its
　　Relevance to Medicine
　　Chapter
　　Tools of Human Molecular Genetics ...
　　Analysis of Individual DNA and
　　RNA Sequences
　　Methods of Nucleic Acid Analysis
　　The Polymerase Chain Reaction
　　In Situ Hybridization to Chromosomes
　　DNA Sequence Analysis
　　Methods of Protein Analysis
　　Chapter
　　Patter of Single-Gene Inheritance
　　Terminology
　　Genetic Disorde with Classical
　　Mendelian Inheritance
　　Autosomal Recessive Inheritance
　　Patter of Autosomal Dominant
　　Inheritance
　　X-linked Inheritance
　　Patter of Pseudoautosomal Inheritance
　　Atypical Patter of Inheritance
　　Summary
　　Chapter
　　Genetic Variation in Individuals:
　　Mutation and Polymorphism
　　Mutation
　　The Molecular Basis of Mutatio and
　　Their Detection
　　Human Genetic Diveity
　　Inherited Variation and Polymorphism
　　in Protei
　　Inherited Variation and Polymorphism in
　　DNA
　　Uses of Polymorphisms in
　　Medical Genetics
　　Chapter
　　Genetic Variation in Populatio
　　Genetic Diveity in Human Populatio
　　Phenotypes， Genotypes， and Gene
　　Frequencies
　　The Hardy-Weinberg Law
　　Frequency of X-Linked Genes and
　　Genotypes
　　Facto That Disturb Hardy-Weinberg
　　Equilibrium
　　Conclusion
　　Chapter
　　Gene Mapping and the Human Genome
　　Project
　　Physical Mapping of Human Genes
　　Mapping Human Genes by Linkage
　　Analysis
　　Applicatio of Human Gene Mapping
　　The Human Genome Project
　　Chapter
　　Principles of Clinical
　　Cytogenetics
　　Introduction to Cytogenetics
　　Chromosome Abnormalities
　　Parent-of-Origin Effects
　　Studies of Chromosomes in
　　Human Meiosis
　　Mendelian Disorde with
　　Cytogenetic Effects
　　Cytogenetic Analysis in Cancer
　　Chapter
　　Clinical Cytogenetics: Disorde
　　of the Autosomes and the
　　Sex Chromosomes
　　Autosomal Disorde
　　The Sex Chromosomes and
　　Their Abnormalities
　　Clinical Case Studies Illustrating
　　Genetic Principles
　　Chapter
　　Principles of Molecular Disease:
　　Lesso from the
　　Hemoglobinopathies
　　The Effect of Mutation on
　　Protein Function
　　How Mutatio Disrupt the
　　Formation of Biologically Normal
　　Protei
　　Hemoglobi and Their Diseases
　　Genetic Disorde of Hemoglobin
　　Conclusion
　　Chapter
　　The Molecular and Biochemical
　　Basis of Genetic Disease
　　Diseases Due to Mutatio in
　　Different Classes of Protei
　　Enzyme Defects
　　Defects in Receptor Protei
　　Traport Defects
　　Disorde of Structural
　　Protei
　　Neurodegenerative Disorde
　　Pharmacogenetic Diseases
　　Conclusion
　　Chapter
　　The Treatment of Genetic
　　Disease
　　The Current State of Treatment of
　　Genetic Disease
　　Special Coideratio in
　　Treating Genetic Disease
　　Treatment Strategies
　　Chapter
　　Genetics of the Immune System
　　The Major Histocompatibility
　　Complex
　　Immunoglobuli
　　The T-Cell Antigen Receptor
　　Single-Gene Disorde of the
　　Immune System
　　Chapter
　　Genetics of Disorde with
　　Complex Inheritance
　　Genetic Analysis of Qualitative
　　Disease Traits
　　Genetic Analysis of Quantitative
　　Traits
　　Genetic Mapping of Complex Traits
　　Diseases with Complexlnheritance
　　Conclusion
　　Chapter
　　Genetics and Cancer
　　Cancer Biology
　　Genetic Basis of Cancer
　　Oncogenes
　　Tumor-Suppressor Genes
　　Tumor Progression by Clonal Evolution
　　Cancer and the Environment
　　Conclusion
　　Chapter
　　Genetic Aspects of Development ...
　　（with the assistance of Gregory S. Bah， MD， PhD.）
　　Introduction to Developmental
　　Biology
　　Genes in Development
　　Early Development: Fertilization
　　to Gastrulation
　　Gene Expression During Development
　　Developmental Genetics in
　　Clinical Practice
　　Recent Advances in Developmental
　　Genetics and Potential
　　Applicatio
　　Chapter
　　Prenatal Diagnosis
　　Indicatio for Prenatal Diagnosis
　　Genetic Coueling for Prenatal
　　Diagnosis
　　Methods of Prenatal Diagnosis
　　Emerging Technologies for
　　Prenatal Diagnosis
　　Laboratory Studies
　　The Effect of Prenatal Diagnosis on the
　　Prevention and Management of
　　Genetic Disease
　　Conclusion
　　Chapter
　　Genetic Coueling and Risk
　　Assessment
　　Genetic Coueling
　　Case Management in Genetic Coueling
　　Determining Recurrence Risks
　　Conclusion
　　Chapter
　　Genetics and Society
　　Population Screening for Genetic
　　Disease
　　Ethical Issues in Medical Genetics
　　Eugenic and Dysgenic Effects on
　　Gene Frequencies
　　Conclusion
　　Glossary
　　Awe to Problems
　　Index

　　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。
　　本书是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。