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
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
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