1 Background and History, 1 What is Medical Genetics? 1 Why is a Knowledge of Medical Genetics Important for Today's Health Care Practitioner? 1 A Brief History, 1 Types of Genetic Diseases, 3 The Clinical Impact of Genetic Disease, 4 2 Basic Cell Biology: Structure and Function of Genes and Chromosomes, 6 DNA, RNA, and Proteins: Heredity at the Molecular Level, 7 The Structure of Genes and the Genome, 19 The Cell Cycle, 23 3 Genetic Variation: Its Origin and Detection , 29 Mutation - The Source of Genetic Variation, 29 Detection and Measurement of Genetic Variation, 40 [this section will de-emphasize RFLP technology, which is now quite dated, and will contain more material on newer methods such as DNA chips, microarrays, and PCR-free detection of polymorphisms] 4 Autosomal Dominant and Recessive Inheritance, 58 Basic Concepts of Formal Genetics, 58 Autosomal Dominant Inheritance, 64 Autosomal Recessive Inheritance, 66 Factors that May Complicate Inheritance Patterns, 69 Consanguinity in Human Populations, 84 5 Sex-Linked and Mitochondrial Inheritance, 89 X inactivation, 89 Sex-Linked Inheritance, 91 Sex-Limited and Sex-Influenced Traits, 102 Mitochondrial Inheritance 6 Clinical Cytogenetics: The Chromosomal Basis of Human Disease, 108 Cytogenetic Technology and Nomenclature, 108 Abnormalities of Chromosome Number, 112 Chromosome Abnormalities and Pregnancy Loss, 122 Abnormalities of Chromosome Structure, 122 Chromosome Abnormalities and Clinical Phenotype, 132 Cancer Cytogenetics, 133 Chromosome Instability Syndromes, 134 7 Biochemical Genetics: Disorders of Metabolism, 136 Variants of Metabolism, 136 Defects of Metabolic Processes, 137 Pharmacogenetics, 154 [this section will be expanded considerably to deal with the new field of pharmacogenomics, using several examples in which genetic variation can be assayed to predict the efficacy of specific drugs] 8 Gene Mapping and Cloning, 156 Genetic Mapping, 156 Physical Mapping and Cloning, 169 The Human Genome Project [this section will deal with findings that have now emerged as a result of the near-completion of the genome project] 9 Immunogenetics, 188 The Immune Response: Basic Concepts, 188 Immune Response Proteins: Genetic Basis of Structure and Diversity, 193 The Major Histocampatibility Complex, 195 The ABO and Rh Blood Groups, 200 Immunodeficiency Diseases, 201 10 Developmental Genetics, 204 Development: Basic Concepts, 204 Genetic Mediators of Development: The Molecular Toolbox, 205 Pattern Formation, 209 11 Cancer Genetics, 221 Causes of Cancer, 221 Cancer Genes, 223 Major Classes of Cancer Genes, 226 Identification of Inherited Cancer Genes, 231 Molecular Basis of Cancer, 237 Is Genetic Inheritance Important in Common Cancers? 238 12 Multifactorial Inheritance and Common Diseases, 240 Principles of Multifactorial Inheritance, 240 Nature and Nurture: Disentangling the Effects of Genes and Environment, 247 The Genetics of Common Diseases, 250 13 Genetic Screening, Genetic Diagnosis, and Gene Therapy, 266 Population Screening for Genetic Diseases, 266 Molecular Tools for Screening and Diagnosis, 272 [additional material will appear on the use of DNA chips and other new technologies for genetic screening and diagnosis] Prenatal Diagnosis of Genetic Disorders and Congenital Defects, 275 Fetal Treatment, 282 Gene Therapy, 283 Human cloning, genetic enhancement, and embryonic stem cell research 14 Clinical Genetics and Genetic Counseling, 290 The Principles and Practice of Clinical Genetics, 290 Dysmorphology and Clinical Teratology, 300 15 Genetics and Society Genetics and Privacy Genetic Discrimination Societal Implications of New Genetic Technologies Answers to Study Questions, 309 Glossary, 319
