This fourth edition of the best-selling textbook, Human Genetics and Genomics, clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions.

A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice.

Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today's genetics teaching, and includes updated discussion of genetic risk assessment, "single gene" disorders and therapeutics.

Key learning features include:

• Clinical snapshots to help relate science to practice


• 'Hot topics' boxes that focus on the latest developments in testing, assessment and treatment


• 'Ethical issues' boxes to prompt further thought and discussion on the implications of genetic developments


• 'Sources of information' boxes to assist with the practicalities of clinical research and information provision


• Self-assessment review questions in each chapter

Accompanied by the Wiley E-Text digital edition (included in the price of the book), Human Genetics and Genomics is also fully supported by a suite of online resources at www.korfgenetics.com, including:

• Factsheets on 100 genetic disorders, ideal for study and exam preparation


• Interactive Multiple Choice Questions (MCQs) with feedback on all answers


• Links to online resources for further study


• Figures from the book available as PowerPoint slides, ideal for teaching purposes

The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline.

Bruce R. Korf is Wayne H. and Sara Crews Finley Chair in Medical Genetics, Professor and Chair, Department of Genetics, and Director, Heflin Center for Genomic Sciences, at the University of Alabama at Birmingham.

Mira B. Irons is Park Gerald Chair in Genetics and Associate Chief, Division of Genetics, at the Children's Hospital Boston, and Associate Professor of Pediatrics at Harvard Medical School.

Preface vii

How to get the best out of your textbook viii

PART ONE: BASIC PRINCIPLES OF HUMAN GENETICS 1

1 DNA Structure and Function 3

2 Genetic Variation 20

3 Patterns of Inheritance 38

4 The Human Genome 64

5 Multifactorial Inheritance 87

6 Cell Division and Chromosomes 100

7 Population Genetics 125

8 Cancer Genetics 137

PART TWO: GENETICS AND GENOMICS IN MEDICAL PRACTICE 155

9 Chromosome Translocation 157

10 Molecular Diagnosis 171

11 Newborn Screening 182

12 Developmental Genetics 194

13 Carrier Screening 203

14 Genetic Risk Assessment 213

15 Genetic Testing for Risk of Cancer 222

16 Pharmacogenetics 230

17 Treatment of Genetic Disorders 239

Answers to Review Questions 248

Glossary 253

Index 262