Emery's Elements of Medical Genetics

SECTION A

PRINCIPLES OF HUMAN GENETICS

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

Mosaicism 120

Uniparental Disomy 121

Genomic Imprinting 121

Mitochondrial Inheritance 126

8 Population and Mathematical

Genetics 129

Allele Frequencies in Populations 129

Genetic Polymorphism 135

Segregation Analysis 135

Genetic Linkage 136

Medical and Societal