Genetics and Genomics for the Cardiologist

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Springer Science & Business Media, Nov 30, 2002 - Medical - 227 pages
Genetics and Genomics for the Cardiologist is a concise, but comprehensive volume for the clinical cardiologist or medical student interested in learning how molecular genetics is now being applied to prevention and treatment of heart diseases, from DNA tests to pharmacogenomics and gene-based therapeutics. The volume, written in a plain language, contains detailed figures. A rich glossary, three appendices, many references and several URLs provide additional sources of information.
 

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Contents

THE HUMAN GENOME
1
12 Structural and functional organization of human chromosomes
3
13 Structural and functional organization of human genes
6
14 Artificial banding of human chromosomes
10
15 Replication of human DNA and the origin of new mutations
12
16 Effects of mutations in DNA sequences
13
17 DNA markers
18
18 Chromosomal basis of inheritance
21
43 Arrhythmic disorders
113
44 Genetic basis of congenital heart defects in humans
120
45 Transgenic animals and the genetic dissection of developmental phenotypes
123
46 Understanding cardiovascular development
126
INHERITED CARDIOVASCULAR DISORDERS
131
52 Coronary atherosclerosis and myocardial infarction
132
53 Genetics of hypertension
140
54 Understanding hypertension through animal models
149

19 The main reference database for human diseasegenes
25
110 The Human Mutation Database and the nomenclature for human mutations
26
FROM GENOME TO CLINICAL PHENOTYPE
31
22 The differential expression of human genes
38
23 From transcriptome to proteome and metabolome
41
24 The transcriptome of the human heart
44
25 Genotype and phenotype
46
26 Molecular explanation of dominance of some mutations
51
27 Gene dosage
53
29 Multifactorial diseases
56
IDENTIFYING DISEASE GENES IN HUMANS
63
32 The positional candidate gene approach
67
33 Linkage analysis in Mendelian diseases
69
34 Linkage analysis in multifactorial diseases
79
35 Detecting pathogenic mutations
84
36 Establishing the pathogenic role of specific mutations
90
37 Establishing genotypephenotype correlations
93
INHERITED STRUCTURAL AND FUNCTIONAL DEFECTS OF MYOCARDIUM
97
42 Genetic heterogeneity of cardiomyopathies and the final common pathway hypothesis
107
GENETICS AND GENOMICS APPLIED TO DIAGNOSIS AND THERAPY
153
62 Purposes and methods of genetic testing
154
63 Novel genetic tests
160
64 Genetic risk assessment
162
some ethical and legal aspects
166
pharmacogenetics and pharmacogenomics
169
67 Pharmacogenetics in Cardiology
171
68 Pharmacogenomics and beyond
173
69 Genebased therapeutics
175
CONCLUSION
183
REFERENCES
185
GLOSSARY
199
Updated Information from the Web
211
OMIM IDs for monogenic disorders relevant to Cardiology
213
Genes encoding ionic channels and expressed in human heart
219
CREDITS
220
INDEX
221
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