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Human molecular genetics / Peter Sudbery and Ian Sudbery. — 3rd ed. — Harlow, England ; New York : Pearson Education, 2009. – (59.34/S943/3rd ed.) |
Contents
Contents
Preface
Acknowledgements
Abbreviations
1 Human genetic disease
1.1 Introduction
1.2 Single-gene defects
1.3 Multifactorial or complex disorders and traits
1.4 Chromosomal mutations
1.5 Mitochondrial mutations
1.6 The Human Genome Project
1.7 Summary
Further reading
2 introduction to the structure of the human genome
2.1 Introduction
2.2 Sequence architecture of the human genome
2.3 Structure of chromosomes
2.4 Summary
Further reading
3 Mapping the human genome
3.1 Introduction
3.2 Sequence tagged sites: a common currency for the different types of map
3.3 Genetic maps
3.4 Physical maps
3.5 An integrated physical and genetic map of the human genome
3.6 Genome mapping is big science
3.7 Summary
Further reading
4 The sequence of the human genome
4.1 Introduction
4.2 Basic technology for sequencing the human genome
4.3 The IHGSC clone-by-clone sequencing strategy
4.4 The Celera shotgun sequencing
4.5 Finishing the sequence
4.6 Single nucleotide polymorphisms
4.7 Annotating the sequence
4.8 Sequencing other genomes
4.9 Analysis of the human genome sequence
4.10 Genomics
4.11 The ENCODE Project
4.12 Next-generation sequencing technologies
4.13 Catalogues of somatic mutations
4.14 Summary
Further reading
5 Single-gene disorders
5.1 Introduction
5.2 Cloning disease genes
5.3 Cystic fibrosis
5.4 Duchenne muscular dystrophy
5.5 Trinucleotide repeat expansion mutations
5.6 Haemoglobinopathies
5.7 Inherited predisposition to cancer
5.8 Summary
Further reading
6 The genetic components of complex diseases
6.1 Introduction
6.2 Evidence for a genetic component in complex disorders and phenotypic traits
6.3 The genetic architecture of complex diseases
6.4 Experimental approaches to identifying risk alleles
6.5 Genome-wide association studies
6.6 Case studies of complex diseases
6.7 Summary
Further reading
7 Small RNAs in human genetics
7.1 Introduction
7.2 Structure and function of microRNAs
7.3 MicroRNA genomics
7.4 MicroRNAs in human disease and diagnostics
7.5 RNA interference
7.6 RNAi screening to identify gene function and identifying drug targets
7.7 Therapeutic RNAi
7.8 The diversity of small RNAs
7.9 Summary
Further reading
8 Genetic testing
8.1 Introduction
8.2 Testing for known mutations
8.3 Scanning genes for unknown mutations
8.4 Summary
Further reading
9 Gene therapy
9.1 Introduction
9.2 Types of gene therapy
9.3 Methods of transferring transgenes into target cells
9.4 Gene therapy for cystic fibrosis
9.5 Progress and adverse events
9.6 Summary
Further reading
10 Human population genetics and evolution
10.1 Introduction
10.2 Basic principles in human population genetics
10.3 Recent human evolution
10.4 Disease frequencies in different populations
10.5 Summary
Further reading
11 DNA profiling in forensic criminology
11.1 Introduction
11.2 Current markers used for DNA profiling
11.3 DNA databases
11.4 Difficulties in the legal interpretation of DNA profiles
11.5 Oversights of forensic DNA profiling
11.6 Summary
Further reading
12 Human genetics and society
12.1 Introduction
12.2 Genetic testing
12.3 Human rights
12.4 Patents
12.5 Gene therapy
12.6 Genetic determinism
12.7 Summary
Further reading
Glossary
Index
