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