Genetics and Genomics for the Cardiologist

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 Phenotype.- 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 the genetic dissection of developmental phenotypes.- 4.6 Understanding cardiovascular development.- 5: Inherited Cardiovascular Disorders.- 5.1Structural 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 Genomics Applied