Genetics and Genomics for the Cardiologist

Preface. Acknowledgements.1: The Human Genome. 1.1. Size and characteristics of nuclear and mitochondrial genome in humans. 1.2. Structural and functional organization of human chromosomes. 1.3. Structural and functional organization of human genes. 1.4. Artificial banding of human chromosomes. 1.5. Replication of human DNA and the origin of new mutations. 1.6. Effects of mutations in DNA sequences. 1.7. DNA markers. 1.8. Chromosomal basis of inheritance. 1.9. The main reference database for human disease genes. 1.10. The Human Mutation Database and the nomenclature for human mutations.2: From Genome to Clinical Genotype. 2.1. Analyzing the human transcriptome. 2.2. The differential expression of human genes. 2.3. From transcriptome to proteome and metabolome. 2.4. The transcriptome of the human heart. 2.5. Genotype and phenotype. 2.6. Molecular explanation of dominance of some mutations. 2.7 Gene dosage. 2.8. Peculiarity of phenotypes due to mutations in mitochondrial DNA. 2.9. Multi-factorial diseases.3: Identifying disease genes in humans. 3.1. Starting with the family. 3.2. The positional candidate gene approach. 3.3. Linkage analysis in Mendelian diseases. 3.4. Linkage analysis in multifactorial diseases. 3.5. Detecting pathogenic mutations. 3.6. Establishing the pathogenic role of specific mutations. 3.7. Establishing genotype-phenotype correlations.4: Inherited structural and functional defects of myocardium. 4.1. Cardiomyopathies. 4.2. Genetic heterogeneity of cardiomyopathies and the 'final common pathway' hypothesis. 4.3. Arrhythmic disorders. 4.4. Genetic basis of congenital heart defects in humans. 4.5. Transgenic animals and genetic dissection of developmental phenotypes. 4.6. Understanding cardiovascular development.5: Inherited cardiovascular disorders. 5.1. Structural defects of vessels. 5.2. Coronary atherosclerosis and myocardial infarction. 5.3. Genetics of hypertension. 5.4. Understanding hypertension through animal models.6: Genetics and