BOOK
Crash Course: Cell Biology and Genetics E-Book
Matthew Stubbs | Narin Suleyman | Daniel Horton-Szar | Paul Simons
(2013)
Additional Information
Book Details
Abstract
The new series of Crash Course continues to provide readers with complete coverage of the MBBS curriculum in an easy-to-read, user-friendly manner. Building on the success of previous editions, the new Crash Courses retain the popular and unique features that so characterised the earlier volumes. All Crash Courses have been fully updated throughout.
- More than 180 illustrations present clinical, diagnostic and practical information in an easy-to-follow manner
- Friendly and accessible approach to the subject makes learning especially easy
- Written by students for students - authors who understand exam pressures
- Contains ‘Hints and Tips’ boxes, and other useful aide-mémoires
- Succinct coverage of the subject enables ‘sharp focus’ and efficient use of time during exam preparation
- Contains a fully updated self-assessment section - ideal for honing exam skills and self-testing
- Self-assessment section fully updated to reflect current exam requirements
- Contains ‘common exam pitfalls’ as advised by faculty
- Crash Courses also available electronically!
- Online self-assessment bank also available - content edited by Dan Horton-Szar!
Table of Contents
| Section Title | Page | Action | Price |
|---|---|---|---|
| Front Cover | Cover | ||
| Crash Course: Cell Biology and Genetics | iii | ||
| Copyright | iv | ||
| Contents | v | ||
| Series editor foreword | vii | ||
| Prefaces | ix | ||
| Authors | ix | ||
| Faculty advisor | ix | ||
| Acknowledgements | xi | ||
| Dedication | xiii | ||
| Chapter 1: Cell biology and genetics of prokaryotes | 1 | ||
| Prokaryotic cell | 1 | ||
| Prokaryotic cell structure and organelles | 1 | ||
| Plasma membrane | 1 | ||
| Cell wall | 1 | ||
| Ribosomes | 3 | ||
| Nucleiod | 3 | ||
| Cytoskeleton | 3 | ||
| Cell specializations | 3 | ||
| Glycocalyx | 3 | ||
| Flagella | 3 | ||
| Pili | 3 | ||
| Transfer of genetic material | 4 | ||
| DNA replication | 5 | ||
| DNA polymerases | 5 | ||
| DNA replication fork | 6 | ||
| Antimicrobial agents | 6 | ||
| Inhibitors of nucleic acid synthesis | 6 | ||
| DNA replication | 7 | ||
| RNA polymerase activity | 7 | ||
| Inhibitors of cell-wall synthesis | 7 | ||
| β-lactams | 7 | ||
| Glycopeptides | 7 | ||
| Inhibitors of protein synthesis | 7 | ||
| Antibiotics and mitochondria | 7 | ||
| Inhibitors of metabolic pathways: anti-metabolites | 8 | ||
| Inhibitors of cell-membrane function | 8 | ||
| Antibiotic resistance | 8 | ||
| Viruses | 8 | ||
| Viral genomes | 8 | ||
| DNA viruses | 9 | ||
| Double-stranded DNA viruses | 9 | ||
| Single-stranded DNA viruses | 9 | ||
| Reverse transcribing DNA viruses | 9 | ||
| RNA viruses | 9 | ||
| Double-stranded RNA viruses | 9 | ||
| Positive-sense, single-stranded RNA viruses | 9 | ||
| Negative-sense, single-stranded RNA viruses | 9 | ||
| Reverse transcribing RNA viruses | 10 | ||
| Pathogenesis of viral infection | 10 | ||
| Antiviral chemotherapy | 10 | ||
| Viral attachment to the host cell | 11 | ||
| Viral penetration and uncoating | 11 | ||
| Viral nucleic-acid synthesis | 11 | ||
| DNA polymerase inhibitors | 11 | ||
| Reverse transcriptase inhibitors | 11 | ||
| Virus particle maturation | 11 | ||
| Virus release | 11 | ||
| Chapter 2: Eukaryotic organelles | 13 | ||
| The eukaryotic cell | 13 | ||
| Structure and function of eukaryotic organelles | 13 | ||
| Plasma membrane | 13 | ||
| Membranous organelles | 13 | ||
| Nucleus | 13 | ||
| Mitochondria | 15 | ||
| Rough (granular) endoplasmic reticulum | 15 | ||
| Smooth (agranular) endoplasmic reticulum | 17 | ||
| Golgi apparatus | 17 | ||
| Lysosomes | 17 | ||
| Peroxisomes | 17 | ||
| Secretory vesicles | 17 | ||
| Non-membranous organelles | 18 | ||
| Ribosomes | 18 | ||
| The cytoskeleton | 18 | ||
| Cell diversity in multicellular organisms | 18 | ||
| Cell specialization | 18 | ||
| Differentiation | 20 | ||
| Chapter 3: The cell membrane | 21 | ||
| Structure of the cell membrane | 21 | ||
| Fluid mosaic model | 21 | ||
| Components of the biological membrane | 21 | ||
| Lipids | 21 | ||
| Phospholipids | 21 | ||
| Cholesterol | 22 | ||
| Membrane proteins | 22 | ||
| Integral proteins | 22 | ||
| Peripheral proteins | 23 | ||
| Functions of membrane proteins | 24 | ||
| Properties of biological membranes | 24 | ||
| Fluidity | 24 | ||
| Mobility of membrane components | 24 | ||
| Phospholipids | 24 | ||
| Proteins | 24 | ||
| Permeability | 25 | ||
| Transport across the cell membrane | 25 | ||
| Concepts | 25 | ||
| Distribution of ions across the cell membrane | 26 | ||
| Semi-permeable membrane concept | 26 | ||
| Electrochemical gradient | 26 | ||
| Pumps | 27 | ||
| Transport across the membrane | 27 | ||
| Passive (simple) diffusion | 27 | ||
| Facilitated diffusion | 27 | ||
| Active transport | 28 | ||
| Primary active transport | 28 | ||
| Secondary active transport | 28 | ||
| Transport mechanisms | 28 | ||
| Ion channels | 28 | ||
| Carrier proteins | 29 | ||
| Glucose transporter | 29 | ||
| Active transporters | 29 | ||
| The Na+/K+ ATPase pump | 29 | ||
| Membrane potential | 29 | ||
| Definition | 29 | ||
| Maintenance of membrane potential | 29 | ||
| Electrochemical potential difference of ions | 29 | ||
| The Nernst equation | 30 | ||
| Gibbs-Donnan equilibrium | 30 | ||
| Resting membrane potential | 31 | ||
| Receptors | 32 | ||
| Concepts of transmembrane signalling | 32 | ||
| Types of receptor | 33 | ||
| Ionotropic receptors | 33 | ||
| Metabotropic receptors (G-protein coupled) | 33 | ||
| Enzyme-linked receptors | 34 | ||
| Intracellular (steroid) receptors | 36 | ||
| Receptors and drugs | 36 | ||
| Chapter 4: The working cell | 39 | ||
| Cytoskeleton and cell motility | 39 | ||
| Concepts | 39 | ||
| Components of the cytoskeleton | 39 | ||
| Microfilaments | 39 | ||
| Intermediate filaments | 40 | ||
| Microtubules | 41 | ||
| Myosin | 42 | ||
| Examples of cytoskeletal function | 42 | ||
| Erythrocyte cytoskeleton | 42 | ||
| Cilia | 42 | ||
| Intestinal epithelium | 43 | ||
| Axonal transport | 43 | ||
| Muscle contraction | 43 | ||
| Motility of phagocytes | 43 | ||
| Mitotic spindle | 43 | ||
| Lysosomes | 43 | ||
| Definition | 43 | ||
| Functions of lysosomes | 44 | ||
| Receptor-mediated endocytosis | 45 | ||
| Lysosomal storage diseases | 45 | ||
| Gaucher disease | 46 | ||
| Cellular interaction and adhesion | 46 | ||
| Cell-cell junctions | 47 | ||
| Tight (occluding) junctions | 47 | ||
| Anchoring junctions | 47 | ||
| Communicating (gap) junctions | 48 | ||
| Adhesion molecules | 48 | ||
| Cadherins | 49 | ||
| Immunoglobulin (Ig) superfamily | 50 | ||
| Selectins | 50 | ||
| Integrins | 51 | ||
| β-1 integrins | 51 | ||
| β-2 integrins | 52 | ||
| Integrin binding | 52 | ||
| Basement membrane | 52 | ||
| Extracellular matrix | 52 | ||
| Proteoglycans | 52 | ||
| Collagen | 53 | ||
| Elastin | 54 | ||
| Laminin | 54 | ||
| Fibronectin | 55 | ||
| Tenascin | 55 | ||
| Role of the fibroblast | 55 | ||
| Chapter 5: Macromolecules | 57 | ||
| Amino acids | 57 | ||
| Essential and non-essential amino acids | 57 | ||
| Structure of amino acids | 57 | ||
| Properties of amino acids | 57 | ||
| Size and structure | 58 | ||
| Cross-linkages | 58 | ||
| Solubility | 58 | ||
| Covalent modification | 58 | ||
| Ionization properties of amino acids | 58 | ||
| The Henderson-Hasselbalch equation | 58 | ||
| Amino acids as buffers | 60 | ||
| Non-protein amino acids | 61 | ||
| Proteins | 61 | ||
| Functions of proteins | 61 | ||
| Organization of proteins | 61 | ||
| Primary structure | 61 | ||
| Secondary structure | 61 | ||
| Tertiary structure | 61 | ||
| Quaternary structure | 61 | ||
| Forces that shape proteins | 62 | ||
| Peptide bond | 62 | ||
| Hydrogen bonds | 62 | ||
| Hydrophobic interactions | 63 | ||
| Ionic interactions | 63 | ||
| van der Waals forces | 63 | ||
| Side-chain interactions | 63 | ||
| Protein folding | 64 | ||
| Structures within proteins | 64 | ||
| α-helix | 64 | ||
| β-pleated sheet | 64 | ||
| Zinc fingers | 64 | ||
| Collagen helix | 65 | ||
| Stability of proteins | 65 | ||
| Complex structures | 65 | ||
| Enzymes and biological energy | 65 | ||
| Properties of enzymes | 65 | ||
| Mechanism of enzyme action | 66 | ||
| Catalysts and biological energy | 66 | ||
| Active sites | 66 | ||
| Regulation of enzyme activity | 67 | ||
| Enzyme kinetics | 67 | ||
| Reaction rates | 67 | ||
| Inhibitors | 68 | ||
| Carbohydrates | 68 | ||
| Monosaccharides | 68 | ||
| Cyclic structures | 69 | ||
| Disaccharides and oligosaccharides | 69 | ||
| Polysaccharides | 71 | ||
| Sugar derivatives | 72 | ||
| Chapter 6: Basic molecular biology and genetics | 73 | ||
| Organization of the cell nucleus | 73 | ||
| Structures of the nucleus | 73 | ||
| Nuclear envelope | 73 | ||
| Nuclear pores | 73 | ||
| Nucleoli | 73 | ||
| Nuclear matrix | 73 | ||
| Nucleic acids | 74 | ||
| Nucleotides and nucleosides | 74 | ||
| Purines and pyrimidines | 75 | ||
| Purine biosynthesis | 75 | ||
| Pyrimidine biosynthesis | 75 | ||
| Salvage pathways | 76 | ||
| Pentose sugars | 76 | ||
| DNA double helix | 76 | ||
| RNA molecules | 76 | ||
| Messenger RNA | 76 | ||
| Heterogeneous nuclear RNA | 76 | ||
| Transfer RNA | 76 | ||
| Ribosomal RNA | 77 | ||
| DNA packaging and chromosomes | 77 | ||
| Chromatin | 78 | ||
| Nucleosomes | 78 | ||
| Solenoid formation | 79 | ||
| Giant supercoil | 79 | ||
| Chromosomes | 79 | ||
| Centromeres | 79 | ||
| Telomeres | 80 | ||
| Nuclear genes | 81 | ||
| Eukaryotic gene structure | 81 | ||
| Promoters | 81 | ||
| Introns and exons | 81 | ||
| 3 sequences | 82 | ||
| Active chromatin | 82 | ||
| Methylation | 82 | ||
| Gene evolution | 82 | ||
| Intron shuffling | 82 | ||
| Gene duplication and multigene families | 82 | ||
| HLA complex | 82 | ||
| Pseudogenes | 83 | ||
| DNA replication | 83 | ||
| Eukaryotic DNA replication | 83 | ||
| DNA polymerases | 84 | ||
| Replication forks | 84 | ||
| Additional proteins involved in DNA replication | 84 | ||
| Proliferating cell nuclear antigen | 84 | ||
| Replication protein A | 84 | ||
| Replication factor C | 85 | ||
| Topisomerases | 85 | ||
| Leading strand synthesis | 86 | ||
| Lagging strand synthesis | 86 | ||
| Telomerase | 86 | ||
| Eukaryotic transcription and RNA synthesis | 86 | ||
| Definition of transcription | 86 | ||
| Eukaryotic transcription | 86 | ||
| Sequence of events | 86 | ||
| Initiation | 86 | ||
| Elongation | 87 | ||
| Termination | 87 | ||
| Eukaryotic post-transcriptional modification | 87 | ||
| Addition of a 5 cap | 87 | ||
| Polyadenylation | 87 | ||
| Splicing | 88 | ||
| Eukaryotic transcriptional regulation | 90 | ||
| Epigenetic mechanisms | 90 | ||
| Eukaryotic translation and protein synthesis | 90 | ||
| The genetic code | 90 | ||
| Mitochondrial DNA and the genetic code | 90 | ||
| Eukaryotic protein synthesis | 90 | ||
| Initiation | 90 | ||
| Elongation | 91 | ||
| Termination | 92 | ||
| Control of gene expression and protein synthesis | 92 | ||
| Constitutive, inducible and repressible enzymes | 92 | ||
| Post-translational modification of proteins | 92 | ||
| Concepts | 92 | ||
| Signal peptide | 93 | ||
| Glycosylation of proteins | 93 | ||
| Other modifications of protein | 94 | ||
| Cell cycle | 94 | ||
| Concept of the cell cycle | 94 | ||
| Regulation of the cell cycle | 94 | ||
| Cyclin-dependent kinases | 95 | ||
| Extracellular regulation of the cell cycle | 96 | ||
| Checkpoints | 96 | ||
| The cell cycle and cancer | 96 | ||
| p53 | 97 | ||
| Mechanisms of apoptosis | 97 | ||
| Mitosis and meiosis | 97 | ||
| Overview of cell division | 97 | ||
| Mitosis | 97 | ||
| Prophase | 97 | ||
| Prometaphase | 97 | ||
| Metaphase | 97 | ||
| Anaphase | 98 | ||
| Telophase | 98 | ||
| Cytokinesis | 98 | ||
| Meiosis | 98 | ||
| Prophase I | 98 | ||
| Metaphase I | 99 | ||
| Anaphase I | 99 | ||
| Telophase I | 99 | ||
| Second division | 99 | ||
| Genetic diversity and gametogenesis | 99 | ||
| Endoreduplication | 100 | ||
| DNA damage and repair | 100 | ||
| DNA damage | 100 | ||
| Mutagens | 100 | ||
| Mutations | 101 | ||
| DNA repair | 102 | ||
| Direct reversal of DNA damage | 102 | ||
| Single-stranded damage | 102 | ||
| Base excision repair | 102 | ||
| Nucleotide excision repair | 102 | ||
| Mismatch repair | 102 | ||
| Double-stranded damage | 102 | ||
| Homologous recombination repair | 102 | ||
| Non-homologous end joining | 103 | ||
| Chapter 7: Tools in molecular medicine | 105 | ||
| Molecular techniques | 105 | ||
| The issue of complexity | 105 | ||
| Preparation | 105 | ||
| Nucleic acid hybridization | 106 | ||
| Separation and detection | 106 | ||
| Gel electrophoresis | 106 | ||
| Staining | 106 | ||
| Restriction digestion of DNA | 106 | ||
| Restriction enzymes | 106 | ||
| Electrophoresis of restriction digested DNA | 107 | ||
| Southern blotting | 107 | ||
| Northern blotting | 109 | ||
| Molecular cloning | 109 | ||
| The basics of cloning | 109 | ||
| Host-vector systems | 109 | ||
| DNA libraries | 109 | ||
| PCR | 110 | ||
| Principles of PCR | 110 | ||
| PCR in practice | 110 | ||
| Template DNA | 110 | ||
| Primers | 110 | ||
| Thermostable polymerases | 111 | ||
| dNTPs | 111 | ||
| Buffer | 111 | ||
| The reaction | 111 | ||
| Controls | 112 | ||
| RT-PCR | 112 | ||
| qPCR | 112 | ||
| Microarrays | 112 | ||
| SNP typing | 112 | ||
| Expression profiling | 112 | ||
| Other microarrays | 112 | ||
| Protein analysis | 112 | ||
| Antibodies | 112 | ||
| Gel electrophoresis and western blotting | 112 | ||
| ELISA | 113 | ||
| Cytogenetics | 113 | ||
| G-banding | 114 | ||
| FISH | 114 | ||
| CGH | 115 | ||
| MLPA | 115 | ||
| The human genome project | 116 | ||
| Overlapping clones | 117 | ||
| Sequencing | 117 | ||
| Sanger sequencing method | 117 | ||
| The reference genome sequence | 118 | ||
| In silico techniques: bioinformatics | 118 | ||
| Next generation sequencing | 118 | ||
| Transcriptomics | 118 | ||
| The human proteome and proteomics | 119 | ||
| 2D gel electrophoresis | 119 | ||
| Mass spectroscopy | 119 | ||
| Genetic maps and identification of disease genes | 119 | ||
| Genetic mapping | 119 | ||
| Linkage maps | 119 | ||
| Physical maps | 120 | ||
| Positional cloning | 120 | ||
| Polymorphic markers | 120 | ||
| Microsatellite markers | 120 | ||
| SNPs | 120 | ||
| Genetic linkage analysis | 121 | ||
| Linkage | 121 | ||
| Recombination | 121 | ||
| The log of odds score | 121 | ||
| Family selection and pedigree analysis | 121 | ||
| Establishing linkage to a chromosome | 122 | ||
| Fine genetic mapping | 122 | ||
| From linked genetic markers to disease gene | 122 | ||
| Mutation analysis | 122 | ||
| Other methods of identification of disease genes | 123 | ||
| Functional cloning | 123 | ||
| Candidate gene approach | 124 | ||
| Exome and genome sequencing | 124 | ||
| Multifactorial diseases | 124 | ||
| GWAS | 124 | ||
| Genetically engineered therapeutics | 124 | ||
| Recombinant proteins | 124 | ||
| Monoclonal antibodies | 124 | ||
| Chapter 8: Genetic disease | 127 | ||
| Genotype and phenotype | 127 | ||
| Mutation and mutations | 127 | ||
| Mechanisms of mutation | 127 | ||
| Substitution | 127 | ||
| Deletion and insertion | 128 | ||
| Inversion | 128 | ||
| Triplet repeat expansions | 128 | ||
| Structural effects of mutation on protein | 128 | ||
| Silent mutations | 128 | ||
| Missense mutations | 128 | ||
| Nonsense mutations | 129 | ||
| Frameshift mutations | 129 | ||
| Functional effects of mutation on protein | 129 | ||
| Loss of function mutations | 129 | ||
| Null mutation | 129 | ||
| Hypomorphic mutation | 129 | ||
| Haploinsufficiency | 129 | ||
| Gain of function mutations | 129 | ||
| Dominant negative mutations | 129 | ||
| Monogenic disorders | 130 | ||
| An introduction to pedigrees | 130 | ||
| Mendelian inheritance of single gene disorders | 130 | ||
| Autosomal dominant disorders | 131 | ||
| Autosomal dominant inheritance | 131 | ||
| Molecular basis of autosomal dominant inheritance | 131 | ||
| Autosomal recessive disorders | 132 | ||
| Autosomal recessive inheritance | 132 | ||
| Complementation | 133 | ||
| Molecular basis of recessive inheritance | 133 | ||
| X-linked disorders | 133 | ||
| X-linked dominant inheritance | 133 | ||
| X-linked recessive inheritance | 134 | ||
| Molecular basis of X-linked recessive inheritance | 134 | ||
| Y-linked (holandric) inheritance | 134 | ||
| Heterogenicity in Mendelian disorders | 135 | ||
| Genetic heterogenicity | 135 | ||
| Allelic heterogenicity | 135 | ||
| Locus heterogenicity | 135 | ||
| Complications to Mendelian pedigree patterns | 135 | ||
| Mechanisms disguising basic Mendelian pedigrees | 135 | ||
| Penetrance and expressivity | 135 | ||
| Anticipation | 135 | ||
| Imprinting | 135 | ||
| Uniparental disomy | 135 | ||
| Mitochondrial inheritance | 136 | ||
| Mosaicism | 136 | ||
| Polygenetic inheritance and multifactorial disorders | 137 | ||
| Multifactorial disorders | 138 | ||
| Threshold model of multifactorial disorders | 138 | ||
| Heritability | 138 | ||
| Environmental factors | 139 | ||
| Genetics of cancer | 139 | ||
| Multistage process of carcinogenesis | 139 | ||
| Oncogenesis | 139 | ||
| Tumour suppressor genes | 140 | ||
| Tumour suppressor genes in inherited cancers | 141 | ||
| Features suggestive of inherited cancer susceptibility in a family | 141 | ||
| Genetic cancer syndromes | 141 | ||
| Chromosomal disorders | 142 | ||
| Nomenclature used for chromosomal disorders | 142 | ||
| Mechanisms leading to numerical chromosomal disorders | 143 | ||
| Polyploidy | 143 | ||
| Trisomies | 143 | ||
| Monosomies | 143 | ||
| Examples of numerical chromosomal disorders | 143 | ||
| Autosomal disorders | 143 | ||
| Trisomy 21 - Down syndrome | 143 | ||
| Trisomy 18 - Edwards syndrome | 144 | ||
| Trisomy 13 - Patau syndrome | 144 | ||
| Sex chromosome disorders | 144 | ||
| 47,XXY - Klinefelter syndrome | 146 | ||
| 45,X0 - Turner syndrome | 146 | ||
| 47,XXX - Trisomy X syndrome | 146 | ||
| 47,XYY | 146 | ||
| XX male - de la Chapelle syndrome | 146 | ||
| Mechanisms leading to structural chromosomal disorders | 147 | ||
| Translocation | 147 | ||
| Inversion | 147 | ||
| Isochromosome | 148 | ||
| Duplication | 148 | ||
| Deletion and ring chromosome | 148 | ||
| Examples of structural chromosomal disorders | 148 | ||
| Treatment of genetic disease | 149 | ||
| Conventional strategies | 149 | ||
| Supportive treatment | 149 | ||
| Surgical correction of gross phenotype | 149 | ||
| Environmental modification | 149 | ||
| Substrate limitation | 149 | ||
| Enzyme and protein replacement | 149 | ||
| Novel and future therapies | 150 | ||
| Gene therapy | 150 | ||
| Stem cell therapy | 150 | ||
| Future therapies | 151 | ||
| Antisense oligonucleotides | 151 | ||
| Therapeutic siRNA | 151 | ||
| Zinc finger nucleases | 151 | ||
| Chapter 9: Principles of medical genetics | 153 | ||
| Population genetics and screening | 153 | ||
| Population genetics | 153 | ||
| Hardy-Weinberg law and equilibrium | 153 | ||
| Factors which disturb Hardy-Weinberg equilibrium | 154 | ||
| Non-random mating | 154 | ||
| Mutation | 154 | ||
| Selection | 154 | ||
| Genetic drift | 154 | ||
| Migration | 154 | ||
| Founder effect | 155 | ||
| Population screening and carrier detection | 155 | ||
| Criteria for a screening programme | 155 | ||
| Methods used for carrier detections and pre-symptomatic diagnosis | 156 | ||
| Direct mutation detection | 156 | ||
| Linkage to a polymorphic marker | 156 | ||
| Biochemical tests | 156 | ||
| DNA microarrays | 157 | ||
| Screening in `at risk´ populations | 157 | ||
| Haemoglobinopathies | 157 | ||
| Tay-Sachs disease | 157 | ||
| Cystic fibrosis | 157 | ||
| Antenatal screening tests | 157 | ||
| `Cascade´ screening | 157 | ||
| Risk assessment and genetic counselling | 157 | ||
| Probability theory as applied to genetics | 158 | ||
| Laws of addition and multiplication of probability | 158 | ||
| The law of addition | 158 | ||
| The law of multiplication | 158 | ||
| Calculating risks from pedigree information | 158 | ||
| Autosomal recessive conditions | 158 | ||
| Autosomal dominant conditions | 158 | ||
| X-linked recessive conditions | 159 | ||
| Bayes´ theorem | 159 | ||
| Aspects of genetic counselling | 160 | ||
| Establishing a diagnosis | 160 | ||
| Presenting the risks in context | 160 | ||
| Discussing options, communication and support | 160 | ||
| Ethical considerations in genetic counselling | 160 | ||
| Consanguinity and incest | 160 | ||
| Disputed paternity | 160 | ||
| Confidentiality and conflicts of interest | 160 | ||
| History and examination | 160 | ||
| History and consultation | 160 | ||
| Outline | 160 | ||
| Specific lines of inquiry | 161 | ||
| Examination | 161 | ||
| Ethical issues in medical genetics | 161 | ||
| Medical ethics and its principles | 161 | ||
| Genethics | 161 | ||
| Presymptomatic and susceptibility testing | 161 | ||
| Familial cancers | 161 | ||
| Late onset diseases | 161 | ||
| Testing of children and adolescents | 163 | ||
| Pre-implantation diagnosis | 163 | ||
| Prenatal diagnosis and therapeutic termination of pregnancy | 163 | ||
| Genetic testing for non-disease traits | 164 | ||
| Data protection and ownership of genetic data | 164 | ||
| Self-assessment | 167 | ||
| Extended-matching questions (EMQs) | 169 | ||
| 1. Theme: viral genomes | 169 | ||
| 2. Theme: antimicrobial agents | 169 | ||
| 3. Theme: prokaryotic organelles | 169 | ||
| 4. Theme: eukaryotic organelles | 169 | ||
| 5. Theme: cell specialization | 170 | ||
| 6. Theme: receptors and signalling | 170 | ||
| 7. Theme: enzyme linked receptors | 170 | ||
| 8. Theme: cellular proteins | 170 | ||
| 9. Theme: extracellular matrix | 171 | ||
| 10. Theme: amino acid side-groups | 171 | ||
| 11. Theme: chromatin: DNA, RNA and their associated nucleoproteins | 171 | ||
| 12. Theme: nuclear genes | 172 | ||
| 13. Theme: detection of target molecules | 172 | ||
| 14. Theme: cloning terminology | 172 | ||
| 15. Theme: features of chromosomal disorders | 172 | ||
| 16. Theme: inheritance of genetic diseases | 173 | ||
| 17. Theme: prenatal diagnosis | 173 | ||
| 18. Theme: presentations of genetic disease | 173 | ||
| Single best answer questions (SBAs) | 175 | ||
| 1. Theme: transfer of genetic material | 175 | ||
| 2. Theme: DNA polymerases | 175 | ||
| 3. Theme: pathogenesis of viral infection | 175 | ||
| 4. Theme: antiviral chemotherapy | 175 | ||
| 5. Theme: the DNA replication fork | 175 | ||
| 6. Theme: viruses | 175 | ||
| 7. Theme: HIV | 175 | ||
| 8. Theme: mitochondria | 176 | ||
| 9. Theme: the nucleus | 176 | ||
| 10. Theme: the cytoskeleton | 176 | ||
| 11. Theme: endoplasmic reticulum | 176 | ||
| 12. Theme: comparing prokaryotic cells with eukaryotic cells | 176 | ||
| 13. Theme: eukaryotic cell differentiation | 176 | ||
| 14. Theme: vesicular bodies – organelles | 176 | ||
| 15. Theme: clinical implications of eukaryotic organelles | 176 | ||
| 16. Theme: membrane proteins | 177 | ||
| 17. Theme: properties of biological membranes | 177 | ||
| 18. Theme: receptors and drugs | 177 | ||
| 19. Theme: signal transduction pathways | 177 | ||
| 20. Theme: membrane potential | 177 | ||
| 21. Theme: transport mechanisms | 177 | ||
| 22. Theme: intracellular receptors | 177 | ||
| 23. Theme: Na+/K+ ATPase pump | 178 | ||
| 24. Theme: distribution of ions across the cell membrane | 178 | ||
| 25. Theme: components of the biological membrane | 178 | ||
| 26. Theme: Gibbs–Donnan equilibrium | 178 | ||
| 27. Theme: disorders of the cell membrane | 178 | ||
| 28. Theme: the cytoskeleton | 178 | ||
| 29. Theme: microfilaments | 178 | ||
| 30. Theme: protein composition of intermediate filaments | 179 | ||
| 31. Theme: microtubules | 179 | ||
| 32. Theme: lysosomes in the working cell | 179 | ||
| 33. Theme: cell-to-cell junctions | 179 | ||
| 34. Theme: adhesion molecules | 179 | ||
| 35. Theme: extracellular matrix | 179 | ||
| 36. Theme: the role of the fibroblast | 179 | ||
| 37. Theme: essential and non-essential amino acids | 179 | ||
| 38. Theme: properties of amino acids | 180 | ||
| 39. Theme: forces that shape proteins | 180 | ||
| 40. Theme: structures within proteins | 180 | ||
| 41. Theme: mechanism of enzyme action | 180 | ||
| 42. Theme: enzyme kinetics | 180 | ||
| 43. Theme: carbohydrates | 180 | ||
| 44. Theme: sugar derivatives | 180 | ||
| 45. Theme: functions of macromolecules | 181 | ||
| 46. Theme: macromolecules in health and disease | 181 | ||
| 47. Theme: structures of the nucleus | 181 | ||
| 48. Theme: nucleotides and nucleosides | 181 | ||
| 49. Theme: RNA molecules | 181 | ||
| 50. Theme: the genetic code | 181 | ||
| 51. Theme: post-translational protein modification | 181 | ||
| 52. Theme: regulation of the cell cycle | 181 | ||
| 53. Theme: the cell cycle and cancer | 182 | ||
| 54. Theme: mitosis | 182 | ||
| 55. Theme: DNA mutation | 182 | ||
| 56. Theme: meiosis | 182 | ||
| 57. Theme: DNA-RNA hybridization | 182 | ||
| 58. Theme: microsatellites | 182 | ||
| 59. Theme: comparative genetic hybridization | 182 | ||
| 60. Theme: RNA compliment | 182 | ||
| 61. Theme: recombination fractions | 183 | ||
| 62. Theme: therapeutic monoclonal antibodies | 183 | ||
| 63. Theme: the human genome | 183 | ||
| 64. Theme: producing monoclonal antibodies | 183 | ||
| 65. Theme: genetic technique | 183 | ||
| 66. Theme: alternative splicing | 183 | ||
| 67. Theme: mode of inheritance | 183 | ||
| 68. Theme: genetic mutation | 183 | ||
| 69. Theme: horizontal inheritance | 183 | ||
| 70. Theme: autosomal recessive inheritance | 184 | ||
| 71. Theme: genetic terminology | 184 | ||
| 72. Theme: proto-oncogenes | 184 | ||
| 73. Theme: Gorlin syndrome | 184 | ||
| 74. Theme: isochromosome | 184 | ||
| 75. Theme: penetrance | 184 | ||
| 76. Theme: penetrance | 184 | ||
| 77. Theme: genetic pedigree | 184 | ||
| 78. Theme: autosomal recessive inheritance | 184 | ||
| 79. Theme: the Guthrie test | 184 | ||
| 80. Theme: X-linked recessive inheritance | 185 | ||
| 81. Theme: termination of pregnancy | 185 | ||
| 82. Theme: justice | 185 | ||
| 83. Theme: antenatal testing | 185 | ||
| 84. Theme: the founder effect | 185 | ||
| 85. Theme: b-thalassaemia | 185 | ||
| 86. Theme: pre-implantation genetic diagnosis | 185 | ||
| EMQ answers | 187 | ||
| SBA answers | 189 | ||
| Objective structured clinical examination questions (OSCEs) | 191 | ||
| Station 1 | 191 | ||
| Glossary | 193 | ||
| Index | 195 |