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Human genetics and genomics

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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 04

5 Multifactorial Inheritance 87

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 104

13 Carrier Screening 203

14 Genetic Risk Assessment 213

15 Genetic Testing for Risk of Cancer 222

18 Pharmacogenetics 230

17 Treatment of Genetic' Disorders " 239

Answers to Review Questions 248

Glossary 253

Index 262