Human Molecular Genetics

Human Molecular Genetics is an established title that provides an authoritative and integrated approach to the molecular aspects of human genetics.

While maintaining the hallmark features of previous editions, the Fifth Edition has been completely updated, so to provide the reader with current developments in the field. The text has been restructured and thoroughly updated: older technologies such as cloning and hybridization have been merged, new gene editing techniques such as Crispr/CAS have been included, and more coverage of GWAS and other large-scale studies is featured. More focus is given on inheritance and variation in the context of populations and on the role of epigenetics in gene regulation.

New Key Concepts at the beginning of each chapter and annotated further reading at the conclusion of each chapter will help readers navigate the wealth of information in this subject. High-quality artwork is found throughout the book, ilustrating the key concepts and mechanisms. For this edition, the authors of the highly acclaimed textbook Human Evolutionary Genetics have penned a new chapter on evolution and anthropology.

A class-proven textbook for upper-level undergraduates and graduate students, Human Molecular Genetics is a go-to book for those studying human molecular genetics or genomics courses.

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.

Tom Strachan is Emeritus Professor of Human Molecular Genetics at Newcastle University, UK. He is the co-author of Human Molecular Genetics, now in its Fourth Edition.
Judith Goodship is Professor of Medical Genetics at Newcastle University and a Clinical Geneticist.
Patrick Chinnery is Director of the Institute of Genetic Medicine at Newcastle University, where he is Professor of Neurogenetics and a Clinical Neurologist.