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
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