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| Introduction | |
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| Genetics and Genomics in Medicine | |
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| Onward | |
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| The Human Genome and the Chromosomal Basis of Heredity | |
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| The Human Genome and Its Chromosomes | |
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| Cell Division | |
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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: Gene Structure and Function | |
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| Information Content of the Human Genome | |
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| The Central Dogma: DNA [right arrow] RNA [right arrow] Protein | |
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| Gene Organization and Structure | |
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| Fundamentals of Gene Expression | |
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| Gene Expression in Action: The [beta]-Globin Gene | |
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| Gene Regulation and Changes in Activity of the 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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| DNA Sequence Analysis | |
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| Advanced Techniques Using Digital Image Capture of Fluorescence-Tagged Nucleotides | |
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| Western Blot Analysis of Proteins | |
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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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| Disorders of Gonadal and Sexual Development | |
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| Patterns of Single-Gene Inheritance | |
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| Overview and Concepts | |
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| Mendelian Inheritance | |
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| Factors Affecting Pedigree Patterns | |
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| Correlating Genotype and Phenotype | |
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| Autosomal Patterns of Mendelian Inheritance | |
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| X-Linked Inheritance | |
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| Pseudoautosomal Inheritance | |
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| Mosaicism | |
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| Imprinting In Pedigrees | |
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| Unstable Repeat Expansions | |
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| Conditions that May Mimic Mendelian Inheritance of Single-Gene Disorders | |
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| Maternal Inheritance of Disorders Caused by Mutations in the Mitochondrial Genome | |
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| Family History as Personalized Medicine | |
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| Genetics of Common Disorders with Complex Inheritance | |
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| Qualitative and Quantitative Traits | |
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| Genetic and Environmental Modifiers of Single-Gene Disorders | |
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| Examples of Multifactorial Traits for which Genetic and Environmental Factors Are Known | |
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| Genetic Variation in Individuals and Populations: Mutation and Polymorphism | |
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| Mutation | |
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| Types of Mutations and Their Consequences | |
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| Human Genetic Diversity | |
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| Inherited Variation and Polymorphism in DNA | |
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| Inherited Variation and Polymorphism in Proteins | |
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| Genotypes and Phenotypes in Populations | |
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| Factors that Disturb Hardy-Weinberg Equilibrium | |
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| Ethnic Differences in the Frequency of Various Genetic Diseases | |
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| Human Gene Mapping and Disease Gene Identification | |
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| The Genetic Landscape of the Human Genome | |
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| Mapping Human Genes by Linkage Analysis | |
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| Mapping of Complex Traits | |
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| From Gene Mapping to Gene Identification | |
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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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| The Hemoglobins | |
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| The Hemoglobinopathies | |
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| The Molecular, Biochemical, and Cellular Basis of Genetic Disease | |
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| Diseases due to Mutations in Different Classes of Proteins | |
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| Diseases Involving Enzymes | |
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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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| 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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| The Molecular Treatment of Disease | |
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| Developmental Genetics and Birth Defects | |
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| Developmental Biology in Medicine | |
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| Introduction to Developmental Biology | |
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| Genes and Environment in Development | |
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| Basic Concepts of Developmental Biology | |
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| Cellular and Molecular Mechanisms in Development | |
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| Interaction of Developmental Mechanisms in Embryogenesis | |
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| Prenatal Diagnosis | |
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| Indications for Prenatal Diagnosis by Invasive Testing | |
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| Methods of Prenatal Diagnosis | |
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| Laboratory Studies | |
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| Emerging Technologies for Prenatal Diagnosis | |
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| Prenatal Prevention and Management of Genetic Disease | |
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| Genetic Counseling for Prenatal Diagnosis | |
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| Cancer Genetics and Genomics | |
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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 | |
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| Applying Genomics to Individualize Cancer Therapy | |
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| Cancer and the Environment | |
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| Personalized Genetic Medicine | |
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| Family History as Personalized Genetic Medicine | |
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| Genetic Screening in Populations | |
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| Screening for Genetic Susceptibility to Disease | |
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| Pharmacogenetics and Pharmacogenomics | |
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| Using Risk Information to Improve Care: Pharmacogenetics | |
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| Pharmacogenomics | |
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| Role of Ethnicity and Race in Personalized Medicine | |
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| Genetic Counseling and Risk Assessment | |
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| The Process of Genetic Counseling | |
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| Determining Recurrence Risks | |
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| Application of Molecular Genetics to Determination of Recurrence Risks | |
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| Empirical Recurrence Risks | |
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| Ethical Issues in Medical Genetics | |
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| Ethical Dilemmas Arising in Medical Genetics | |
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| Eugenic and Dysgenic Effects of Medical Genetics | |
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| Genetics in Medicine | |
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| Glossary | |
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| Answers to Problems | |
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| Index | |