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Human Genetics and Genomics. Edition No. 4

  • Book

  • 288 Pages
  • January 2013
  • John Wiley and Sons Ltd
  • ID: 2253500

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.

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

Authors

Mira B. Irons Children's Hospital Boston and Harvard Medical School. Bruce R. Korf University of Alabama at Birmingham.