Human Molecular Genetics

Human Molecular Genetics has been carefully crafted over successive editions to provide an authoritative introduction to the molecular aspects of human genetics, genomics and cell biology.

Maintaining the features that have made previous editions so popular, this fifth edition has been completely updated in line with the latest developments in the field. Older technologies such as cloning and hybridization have been merged and summarized, coverage of newer DNA sequencing technologies has been expanded, and powerful new gene editing and single-cell genomics technologies have been added. The coverage of GWAS, functional genomics, stem cells, and disease modeling has been expanded. Greater focus is given to inheritance and variation in the context of populations and on the role of epigenetics in gene regulation.

Key features:

Fully integrated approach to the molecular aspects of human genetics, genomics, and cell biology

Accessible text is supported and enhanced throughout by superb artwork illustrating the key concepts and mechanisms

Summary boxes at the end of each chapter provide clear learning points

Annotated further reading helps readers navigate the wealth of additional information in this complex subject and provides direction for further study

Reorganized into five sections for improved access to related topics

Also new to this edition – brand new chapter on evolution and anthropology from the authors of the highly acclaimed Human Evolutionary Genetics

A proven and popular textbook for upper-level undergraduates and graduate students, the new edition of Human Molecular Genetics remains the ‘go-to’ book for those studying human molecular genetics or genomics courses around the world.

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 Hybirdization, 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.