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Human Molecular Genetics


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Table of Contents

Part 1: Basics of DNA, Chromosomes, Cells, Development and Inheritance. 1. Basic Principles of Nucleic Acid Structure and Gene Expression. 2. Fundamentals of Cells and Chromosomes. 3. Fundamentals of Cell-Cell Interactions and Immune System Biology. 4. Aspects of Early Mammalian Development, Cell Differentiation, and Stem Cells. 5. Patterns of Inheritance. Part 2: Understanding Genomes. 6. Core DNA Technologies: Amplifying DNA, Nucleic Acid Hybridization, and DNA Sequencing. 7. Analyzing the Structure and Expression of Genes and Genomes. 8. Principles of Genetic Manipulation of Mammalian Cells. 9. Uncovering the Architecture and Workings of the Human Genome. 10. Gene Regulation and the Epigenome. Part 3: Genetic Variation between Individuals and Species. 11. An Overview of Human Genetic Variation. 12. Human Population Genetics. 13. Comparative Genomics and Genome Evolution. 14. Human Evolution. Part 4: Human Genetic Disease. 15. Chromosomal Abnormalities and Structural Variants. 16. Molecular Pathology: Connecting Phenotypes to Genotypes. 17. Mapping and Identifying Genes for Monogenic Disorders. 18. Complex Disease: Identifying Susceptibility Factors and Understanding Pathogenesis. 19. Cancer Genetics and Genomics. Part 5: Applied Human Molecular Genetics. 20. Genetic Testing in Healthcare and the Law. 21. Model Organisms and Modeling Disease. 22. Genetic Approaches to Treating Disease.

About the Author

Tom Strachan is Emeritus Professor of Human Molecular Genetics at Newcastle University, Newcastle, UK, and is a Fellow of the Royal Society of Edinburgh and a Fellow of the Academy of Medical Sciences. He was the founding Head of Institute at Newcastle University's Institute of Human Genetics (now the Institute of Genetic Medicine) and its Scientific Director from 2001 to 2009. Tom's early research interests were in multigene family evolution and interlocus sequence exchange, notably in the HLA and 21-hydroxylase gene clusters. While pursuing the latter, he became interested in medical genetics. His most recent research has focused on developmental disorders and developmental control genes.
Andrew Read

is Emeritus Professor of Human Genetics at the University of Manchester, UK and a Fellow of the Academy of Medical Sciences. Andrew has been particularly concerned with making the benefits of DNA technology available to people with genetic problems. He established one of the first DNA diagnostic laboratories in the UK over 20 years ago (it is now one of two National Genetics Reference Laboratories), and was founder chairman of the British Society for Human Genetics, the main professional body in this area. His own research is on the molecular pathology of various hereditary syndromes, especially hereditary hearing loss.

Drs. Strachan and Read were recipients of the European Society of Human Genetics Education Award


"With every edition, the authors have improved their significant contribution to the field of human molecular genetics teaching. This book's excellent design makes it unique and it provides a wonderful platform for student learning on a
complex subject." Luis F Escobar, MD., MS.(Peyton Manning Children's Hospital)

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