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