Copyright © 1999, Garland Science.
NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.
Bookshelf ID: NBK7580PMID: 21089233
Human Molecular Genetics, 2nd edition
Tom Strachan and Andrew P Read.
Author InformationNew York: Wiley-Liss; 1999.
ISBN-10: 1-85996-202-5
Excerpt
The idea for this book grew from two earlier efforts, The Human Genome (TS; BIOS Scientific Publishers, 1992) and Medical Genetics, an Illustrated Outline (APR; Gower Medical Publishing, 1989). In these small books we tried to develop a treatment of human genetics based on understanding the structure and function of the normal human genome. Traditionally, textbooks of human genetics tended to start by considering meiosis and the way diseases segregate in pedigrees, whilst textbooks of molecular genetics rarely emphasized human topics. Until recently this was inevitable because so little was understood about the normal human genome. The Human Genome Project has changed all that, and the present book is an attempt to provide a comprehensive integrated study of human molecular genetics.
Contents
- Preface
- Before we start – genetic data and the Internet
- Chapter 1. DNA structure and gene expression
- Chapter 2. Chromosomes in cells
- Chapter 3. Genes in pedigrees
- Chapter 4. Cell-based DNA cloning
- 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
- Chapter 7. Organization of the human genome
- 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
- Chapter 10. Physical and transcript mapping
- Chapter 11. Genetic mapping of mendelian characters
- 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
- 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
- Current status of biomedical book reviewing: Part IV. Major American and British biomedical book publishers.[Bull Med Libr Assoc. 1974]Current status of biomedical book reviewing: Part IV. Major American and British biomedical book publishers.Chen CC. Bull Med Libr Assoc. 1974 Jul; 62(3):302-7.
- An analysis of the human genetics content of 13 general biology textbooks.[J Hered. 1981]Mertens TRBowman D, . J Hered. 1981 Sep-Oct; 72(5):364-8.
- [Hong Seok-hoo's translation of "New Edition of Physiology Textbook"(1906) and its meanings].[Uisahak. 2012][Hong Seok-hoo's translation of "New Edition of Physiology Textbook"(1906) and its meanings].Park JHPark HW, . Uisahak. 2012 Dec 31; 21(3):477-512.
- Review [Perspectives on postgenome medicine: Neurological disorders].[Nihon Rinsho. 2001]Takeda S. Nihon Rinsho. 2001 Jan; 59(1):19-30.
- Review The Human Genome Project and the future of medicine.[Am J Dis Child. 1993]Guyer MSCollins FS, . Am J Dis Child. 1993 Nov; 147(11):1145-52.
- Human Molecular GeneticsHuman Molecular GeneticsBookself
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