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Human Molecular Genetics 2
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Human Molecular Genetics 2
2nd
Tom
Strachan
1
and
Andrew P
Read
2
1
University of Newcastle, Newcastle-upon-Tyne, UK
2
University of Manchester, Manchester, UK
BIOS Scientific Publishers Ltd
1-85996-202-5
1999
© 1999
Garland Science
genetics
Table of Contents
Book Information
Preface
Before we start – genetic data and the Internet
Chapter 1 DNA structure and gene expression
1.1 Building blocks and chemical bonds in DNA, RNA and polypeptides
1.2 DNA structure and replication
1.3 RNA transcription and gene expression
1.4 RNA processing
1.5 Translation, post-translational processing and protein structure
Further reading
References
Chapter 2 Chromosomes in cells
2.1 Organization and diversity of cells
2.2 Development
2.3 Structure and function of chromosomes
2.4 Mitosis and meiosis are the two types of cell division
2.5 Studying human chromosomes
2.6 Chromosome abnormalities
Further reading
References
Chapter 3 Genes in pedigrees
3.1 Mendelian pedigree patterns
3.2 Complications to the basic pedigree patterns
3.3 Factors affecting gene frequencies
3.4 Nonmendelian characters
Further Reading
References
Chapter 4 Cell-based DNA cloning
4.1 Fundamentals of DNA technology and the importance of DNA cloning
4.2 Principles of cell-based DNA cloning
4.3 Vector systems for cloning different sizes of DNA fragments
4.4 Cloning systems for preparing single-stranded DNA and for studying gene expression
Further reading
References
Chapter 5 Nucleic acid hybridization assays
5.1 Preparation of nucleic acid probes
5.2 Principles of nucleic acid hybridization
5.3 Nucleic acid hybridization assays using cloned DNA probes to screen uncloned nucleic acid populations
5.4 Nucleic acid hybridization assays using cloned target DNA, and microarray hybridization technology
Further reading
References
Chapter 6 PCR, DNA sequencing and
in vitro
mutagenesis
6.1 Basic features of PCR
6.2 Applications of PCR
6.3 DNA sequencing
6.4
In vitro
site-specific mutagenesis
Further reading
References
Chapter 7 Organization of the human genome
7.1 General organization of the human genome
7.2 Organization and distribution of human genes
7.3 Human multigene families and repetitive coding DNA
7.4 Extragenic repeated DNA sequences and transposable elements
Further reading
Electronic References (e-Refs)
References Q15
Chapter 8 Human gene expression
8.1 An overview of gene expression in human cells
8.2 Control of gene expression by binding of
trans
-acting protein factors to
cis
-acting regulatory sequences in DNA and RNA
8.3 Alternative transcription and processing of individual genes
8.4 Asymmetry as a means of establishing differential gene expression and DNA methylation as means of perpetuating differential expression
8.5 Long-range control of gene expression and imprinting
8.6 The unique organization and expression of Ig and TCR genes
Further reading
Electronic references (e-Refs)
References
Chapter 9 Instability of the human genome: mutation and DNA repair
9.1 An overview of mutation, polymorphism, and DNA repair
9.2 Simple mutations
9.3 Genetic mechanisms which result in sequence exchanges between repeats
9.4 Pathogenic mutations
9.5 The pathogenic potential of repeated sequences
9.6 DNA repair
Further reading
References
Chapter 10 Physical and transcript mapping
10.1 Low resolution physical mapping
10.2 High resolution physical mapping: chromatin and DNA fiber FISH and restriction mapping
10.3 Assembly of clone contigs
10.4 Constructing transcript maps and identifying genes in cloned DNA
Further Reading
References
Chapter 11 Genetic mapping of mendelian characters
11.1 Recombinants and nonrecombinants
11.2 Genetic markers
11.3 Two-point mapping
11.4 Multipoint mapping is more efficient than two-point mapping
11.5 Standard lod score analysis is not without problems
Further reading
References
Chapter 12 Genetic mapping of complex characters
12.1 Parametric linkage analysis and complex diseases
12.2 Nonparametric linkage analysis does not require a genetic model
12.3 Association is in principle quite distinct from linkage, but where the family and the population merge, linkage and association merge
12.4 Linkage disequilibrium as a mapping tool
12.5 Thresholds of significance are an important consideration in analysis of complex diseases
12.6 Strategies for complex disease mapping usually involve a combination of linkage and association techniques
Further reading
References
Chapter 13 Genome projects
13.1 The history, organization, goals and value of the Human Genome Project
13.2 Genetic and physical mapping of the human genome
13.3 Model organism and other genome projects
13.4 Life in the post-genome (sequencing) era
Further reading
Electronic information on the Human Genome Project (and related projects)
Electronic references
References
Chapter 14 Our place in the tree of life
14.1 Evolution of the mitochondrial genome and the origin of eukaryotic cells
14.2 Evolution of the eukaryotic nuclear genome: genome duplication and large-scale chromosomal alterations
14.3 Evolution of the human sex chromosomes
14.4 Evolution of human DNA sequence families and DNA organization
14.5 Evolution of gene structure
14.6 What makes us human? Comparative mammalian genome organization and the evolution of modern humans
Further reading
References
Chapter 15 Identifying human disease genes
15.1 Principles and strategies in identifying disease genes
15.2 Position-independent strategies for identifying disease genes
15.3 In positional cloning, disease genes are identified using only knowledge of their approximate chromosomal location
15.4 Positional candidate strategies identify candidate genes by a combination of their map position and expression, function or homology
15.5 Confirming a candidate gene
Further reading
References
Chapter 16 Molecular pathology
16.1 Introduction
16.2 There are rules for the nomenclature of mutations and databases of mutations
16.3 A first classification of mutations is into loss of function vs gain of function mutations
16.4 Loss of function mutations
16.5 Gain of function mutations
16.6 Molecular pathology: from gene to disease
16.7 Molecular pathology: from disease to gene
16.8 Molecular pathology of chromosomal disorders
Further reading
References
Chapter 17 Genetic testing in individuals and populations
17.1 Direct testing is like any other path lab investigation: a sample from the patient is tested to see if it is normal or abnormal
17.2 Gene tracking
17.3 Population screening
17.4 DNA profiling can be used for identifying individuals and determining relationships
Further reading
References
Chapter 18 Cancer genetics
18.1 Cancer is the natural end-state of multicellular organisms
18.2 Mutations in cancer cells typically affect a limited number of pathways
18.3 Oncogenes
18.4 Activation of proto-oncogenes
18.5 Tumor suppressor genes
18.6 Control of the cell cycle
18.7 Control of the integrity of the genome
18.8 The multistep evolution of cancer
Further reading
References
Chapter 19 Complex diseases: theory and results
19.1 Deciding whether a nonmendelian character is genetic: the role of family, twin and adoption studies
19.2 Polygenic theory of quantitative traits
19.3 Polygenic theory of discontinuous characters
19.4 Segregation analysis allows analysis of characters that are anywhere on the spectrum between purely mendelian and purely polygenic
19.5 Seven examples illustrate the varying success of genetic dissection of complex diseases
19.6 Applications of genetic insights into complex diseases
Further reading
References
Chapter 20 Studying human gene structure, expression and function using cultured cells and cell extracts
20.1 Gene structure and transcript mapping studies
20.2 Studying gene expression using cultured cells or cell extracts
20.3 Identifying regulatory sequences through the use of reporter genes and DNA-protein interactions
20.4 Investigating gene function by identifying interactions between a protein and other macromolecules
Further reading
Electronic references
References
Chapter 21 Genetic manipulation of animals
21.1 An overview of genetic manipulation of animals
21.2 The creation and applications of transgenic animals
21.3 Use of mouse embryonic stem cells in gene targeting and gene trapping
21.4 Creating animal models of disease using transgenic technology and gene targeting
21.5 Manipulating animals by somatic cell nuclear transfer
Further reading
References
Chapter 22 Gene therapy and other molecular genetic-based therapeutic approaches
22.1 Principles of molecular genetic-based therapies and treatment with recombinant proteins or genetically engineered vaccines
22.2 The technology of classical gene therapy
22.3 Therapeutics based on targeted inhibition of gene expression and mutation correction in vivo
22.4 Gene therapy for inherited disorders
22.5 Gene therapy for neoplastic disorders and infectious disease
22.6 The ethics of human gene therapy
Further reading
References
Glossary
Appendix
Abbreviations
Copyright © 1999
Garland Science
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