Bruce R. Korf & Mira B. Irons 
Human Genetics and Genomics 

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 href=’http://www.korfgenetics.com/’>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 Power Point 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.

Table of Content

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 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.