Human Molecular Genetics

Citation

Strachan, T., & Read, A. P. (2004). Human Molecular Genetics 3 (3rd ed.). Garland Science.

Chapter Summary

The third edition has 21 chapters in four parts and about 670 pages. It was thoroughly revised after the completion of the Human Genome Project, and the publisher says genome data are integrated throughout. Two chapters are new to this edition: Chapter 3, "Cells and Development", and Chapter 19, "Beyond the Genome Project: Functional Genomics, Proteomics and Bioinformatics".

Part One (Chapters 1–7)

The first part covers DNA structure and function, chromosomes, cells and development, pedigree analysis and the basic techniques used in the laboratory. It is the preparation for everything that follows, and the new Chapter 3, "Cells and Development", adds the cellular and developmental setting to the basic material.

Part Two (Chapters 8–12)

The second part discusses the various genome sequencing projects and the insights they provide into the organisation, expression, variation and evolution of the human genome. The chapter on genome projects was reorganised in this edition, and Chapter 12 includes a new section on molecular phylogenetics.

Part Three (Chapters 13–18)

The third part is the medical core of the book. It focuses on mapping, identifying and diagnosing the genetic causes of Mendelian and complex diseases and of cancer. The sections on complex diseases were completely rewritten and reorganised for this edition.

Part Four (Chapters 19–21)

The last part looks at the wider horizons of functional genomics, proteomics and bioinformatics (Chapter 19), animal models, and therapy, including the cell-based therapies, pharmacogenomics and personalised medicine that the publisher says receive more prominence in this edition.

Key Concepts

Part One (Chapters 1–7)

• DNA structure and function: the starting point for the molecular treatment of genes.
• Chromosomes, cells and development: the cellular context of the genome.
• Pedigree analysis: following inheritance in families.
• Laboratory techniques: the basic methods of the laboratory, introduced before they are applied.

Parts Two–Four (Chapters 8–21)

• Genome projects: the sequencing projects and what they reveal about organisation, expression, variation and evolution.
• Molecular phylogenetics: a new section on reconstructing evolutionary relationships.
• Mendelian and complex disease: mapping and identifying disease genes, and diagnosis.
• Functional genomics and proteomics: the post-genome approach to gene function.
• Ethics boxes: special topic boxes on eugenics, genetic testing and discrimination, germ-line gene therapy and genetic enhancement, and human cloning.

Critical Analysis

Strengths

• A clear movement from basics to disease to application. The four-part structure runs from DNA and techniques through the genome to disease gene identification and then to therapy and functional genomics, so a reader can enter at the level needed.
• Genome-era revision. The publisher states that Human Genome Project data are integrated throughout, that the genome-projects and complex-disease coverage was rewritten, and that virtually every page was revised and updated after the previous edition.
• Attention to ethical, legal and social issues. The Ethics Boxes treat topics such as genetic testing and discrimination, germ-line gene therapy and human cloning alongside the science.
• Reference aids. The book has two indexes, a general one and one listing diseases and disorders, which helps readers who come to it from the clinical side. A CD-ROM of the book's art was sold as a supplement.
• Recognised authors. The publisher notes that the authors received the Education Award of the European Society of Human Genetics in 2007 for their contribution to teaching human molecular genetics.

Limitations

• Dated for current practice. The book was written just after the Human Genome Project, and later editions exist (a fourth edition in 2010 and a fifth in 2018). Methods and clinical genomics have changed since, so this edition is a source for foundations rather than current testing practice.
• Long and demanding. At roughly 670 pages and a molecular level of detail, it is a text for specialist or advanced study, not a quick introduction to clinical genetics.
• Molecular rather than clinical emphasis. Genetic counselling and everyday clinical management are not the organising theme; books on those topics are better for clinical practice.
• Not a counselling or management text. The four parts move from molecular basics to applications such as therapy, but the publisher's outline does not present patient communication or counselling as a topic.

Where It Fits in the Course

Human Molecular Genetics is the advanced molecular text in the medical genetics list. Clinical Genetics and Genomics at a Glance is a visual introduction on double-page spreads, and New Clinical Genetics starts from real families and builds the science as it is needed. Emery's Elements of Medical Genetics and Genomics and Thompson & Thompson Genetics and Genomics in Medicine are the full medical genetics textbooks, from inheritance and genomics to clinical application, and Harper's Practical Genetic Counselling is the practice book for counselling families.

Read Human Molecular Genetics after one of the introductory or textbook-level books, when the molecular mechanisms, gene mapping and the genome itself need more depth than a medical genetics text provides. It pairs well with Harper's: Strachan and Read explain how disease genes are found and analysed, and Harper's how the results are used with families.

How to Use This Book

The book suits graduate students, medical students taking a molecular option, and researchers entering human genetics, who already know basic molecular biology and Mendelian genetics.

• Part One (Chapters 1–7) works as a review; read the chapters whose techniques or concepts are unfamiliar, and Chapter 3 for cells and development.
• Part Two (Chapters 8–12) is the core for understanding the genome and its variation and evolution.
• Part Three (Chapters 13–18) is the core for disease genetics and should be read in order.
• Part Four (Chapters 19–21) is optional reading for functional genomics, animal models and therapy.
• Read the Ethics Boxes alongside the text on testing and gene therapy.
• For current methods, supplement with a later edition or recent review articles.