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
