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Part Ⅰ:Principles of Cell Biology and Molecular Genetics 1

1.General Organization of the cell 3

Cell concept 3

Structure and function of cellular organelles 5

2.Proteins and Enzymes 11

Amino acids 11

Proteins 15

Enzymes 20

3.The Cell Membrane 29

Structure of the cell membrane 29

Transport across the cell membrane 34

Membrane potential 38

Receptors 41

4.The Working Cell 49

Cytoskeleton and cell motility 49

Lysosomes 54

Cell surface and cell adhesion 56

5.The Molecular Basis of Genetics 67

Organization of the cell nucleus 67

Cell cycle 68

Mitosis and meiosis 71

Structure and properties of nucleic acids 74

DNA packaging and repair 77

DNA replication 81

Transcription of DNA 86

Genetic code 92

Translation and protein synthesis 95

Post-translational modification of proteins 100

Genetics of bacteria and viruses 102

Part Ⅱ:Medical Genetics 109

6.Principles of Medical Genetics 111

Patterns of inheritance 111

Genetics in disease 117

Risk assessment and genetic counselling 126

Population genetics and screening 129

Recombinant DNA technology as applied to medicine 133

7.The Genetic Consultation 143

Genetic consultation and history taking 143

Common presentations of genetic disease 145

8.Examples of Genetic Disease 153

Chromosomal disorders 153

Trinucleotide repeat disorders 156

Single gene disorders 158

Genetic cancer syndromes 165

Congenital malformations 169

Part Ⅲ:Self-assessment 177

Multiple-choice Questions 179

Short-answer Questions 184

Essay Questions 185

MCQ Answers 186

SAQ Answers 187

Index 189