Key Features

  • Get a broad view of medical genetics with a unique three-part structure that looks at the Principles of Human Genetics, Genetics in Medicine, and Clinical Genetics.
  • Visualize the appearance of genetic disorders with a fantastic art program that presents many clinical photos of genetic diseases, and work through complicated ideas with an array of full-color illustrative diagrams.
  • Master the material you need to know with a title preferred by faculty and students alike over the last three decades and awarded the British Medical Association Medial Student Textbook of the Year in 2008.

Search the entire contents online at, including 150 USMLE-style multiple choice questions to aid study and self-testing.

Table of Contents



1 The History and Impact of Genetics in

Medicine 3

Gregor Mendel and the Laws of Inheritance 3

DNA as the Basis of Inheritance 5

The Fruit Fly 6

The Origins of Medical Genetics 7

The Impact of Genetic Disease 8

Major New Developments 9

2 The Cellular and Molecular Basis of

Inheritance 13

The Cell 13

DNA: The Hereditary Material 13

Chromosome Structure 15

Types of DNA Sequence 15

Transcription 18

Translation 19

The Genetic Code 20

Regulation of Gene Expression 21

RNA-directed DNA Synthesis 22

Mutations 22

Mutations and Mutagenesis 26

3 Chromosomes and Cell Division 31

Human Chromosomes 31

Methods of Chromosome Analysis 33

Molecular Cytogenetics 34

Chromosome Nomenclature 37

Cell Division 38

Gametogenesis 41

Chromosome Abnormalities 42

4 DNA Technology and Applications 53

DNA Cloning 53

Techniques of DNA Analysis 57

5 Mapping and Identifying Genes

for Monogenic Disorders 73

Position-Independent Identification of Human Disease

Genes 73

Positional Cloning 75

The Human Genome Project 76

6 Developmental Genetics 83

Fertilization and Gastrulation 83

Developmental Gene Families 85

Role of Cilia in Developmental Abnormalities 96

The Limb as a Developmental Model 97

Developmental Genes and Cancer 100

Positional Effects and Developmental Genes 101

Hydatidiform Moles 101

Sexual Differentiation and Determination 101

Epigenetics and Development 103

Twinning 106

7 Patterns of Inheritance 109

Family Studies 109

Mendelian Inheritance 109

Multiple Alleles and Complex Traits 119

Anticipation 120



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© 2012
Churchill Livingstone
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