Table of Contents

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

About the Author

Bruce R. Korf is Wayne H. and Sara Crews Finley Chair inMedical Genetics, Professor and Chair, Department of Genetics, andDirector, Heflin Center for Genomic Sciences, at the University ofAlabama at Birmingham Mira B. Irons is Park Gerald Chair in Geneticsand Associate Chief, Division of Genetics, at theChildren s Hospital Boston, and Associate Professor ofPediatrics at Harvard Medical School