Medical Genetics at a Glance 3e

<p>Preface to the first edition 7<br /> <br /> Preface to the third edition 7<br /> <br /> Acknowledgements 8<br /> <br /> List of abbreviations 9<br /> <br /> Part 1 Overview<br /> <br /> 1 The place of genetics in medicine 12<br /> <br /> Part 2 The Mendelian approach<br /> <br /> 2 Pedigree drawing 14<br /> <br /> 3 Mendel s laws 16<br /> <br /> 4 Principles of autosomal dominant inheritance and pharmacogenetics 19<br /> <br /> 5 Autosomal dominant inheritance, clinical examples 22<br /> <br /> 6 Autosomal recessive inheritance, principles 25<br /> <br /> 7 Consanguinity and major disabling autosomal recessive conditions 28<br /> <br /> 8 Autosomal recessive inheritance, life–threatening conditions 31<br /> <br /> 9 Aspects of dominance 34<br /> <br /> 10 X–linked and Y–linked inheritance 36<br /> <br /> 11 X–linked inheritance, clinical examples 38<br /> <br /> 12 Mitochondrial inheritance 40<br /> <br /> 13 Risk assessment in Mendelian conditions 42<br /> <br /> Part 3 Basic cell biology<br /> <br /> 14 The cell 44<br /> <br /> 15 The chromosomes 46<br /> <br /> 16 The cell cycle 48<br /> <br /> 17 Biochemistry of the cell cycle 50<br /> <br /> 18 Gametogenesis 52<br /> <br /> Part 4 Basic molecular biology<br /> <br /> 19 DNA structure 54<br /> <br /> 20 DNA replication 56<br /> <br /> 21 The structure of genes 58<br /> <br /> 22 Production of messenger RNA 60<br /> <br /> 23 Non–coding RNA 62<br /> <br /> 24 Protein synthesis 64<br /> <br /> Part 5 Genetic variation<br /> <br /> 25 Types of genetic alterations 66<br /> <br /> 26 Mutagenesis and DNA repair 68<br /> <br /> 27 Genomic imprinting 70<br /> <br /> 28 Dynamic mutation 73<br /> <br /> 29 Normal polymorphism 76<br /> <br /> 30 Allele frequency 79<br /> <br /> Part 6 Organization of the human genome<br /> <br /> 31 Genetic linkage and genetic association 82<br /> <br /> 32 Physical gene mapping 84<br /> <br /> 33 Gene identifi cation 86<br /> <br /> 34 Clinical application of linkage and association 88<br /> <br /> Part 7 Cytogenetics<br /> <br /> 35 Chromosome analysis 90<br /> <br /> 36 Autosomal aneuploidies 92<br /> <br /> 37 Sex chromosome aneuploidies 94<br /> <br /> 38 Chromosome structural abnormalities 96<br /> <br /> 39 Chromosome structural abnormalities, clinical examples 98<br /> <br /> 40 Contiguous–gene and single–gene syndromes 102<br /> <br /> Part 8 Embryology and congenital abnormalities<br /> <br /> 41 Human embryology in outline 106<br /> <br /> 42 Body patterning 108<br /> <br /> 43 Sexual differentiation 110<br /> <br /> 44 Abnormalities of sex determination 112<br /> <br /> 45 Congenital abnormalities, pre–embryonic, embryonic and of intrinsic causation 114<br /> <br /> 46 Congenital abnormalities arising at the fetal stage 117<br /> <br /> 47 Development of the heart 120<br /> <br /> 48 Cardiac abnormalities 122<br /> <br /> 49 Facial development and dysmorphology 124<br /> <br /> Part 9 Multifactorial inheritance and twin studies<br /> <br /> 50 Principles of multifactorial disease 127<br /> <br /> 51 Multifactorial disease in children 130<br /> <br /> 52 Common disorders of adult life 133<br /> <br /> 53 Twin studies 136<br /> <br /> Part 10 Cancer<br /> <br /> 54 The signal transduction cascade 138<br /> <br /> 55 The eight hallmarks of cancer 140<br /> <br /> 56 Familial cancers 142<br /> <br /> 57 Genomic approaches to cancer management 144<br /> <br /> Part 11 Biochemical genetics<br /> <br /> 58 Disorders of amino acid metabolism 146<br /> <br /> 59 Disorders of carbohydrate metabolism 149<br /> <br /> 60 Metal transport, lipid metabolism and amino acid catabolism defects 152<br /> <br /> 61 Disorders of porphyrin and purine metabolism and the urea/ornithine cycle 156<br /> <br /> 62 Lysosomal, glycogen storage and peroxisomal diseases 160<br /> <br /> 63 Biochemical diagnosis 165<br /> <br /> Part 12 Immunogenetics<br /> <br /> 64 Immunogenetics, cellular and molecular aspects 168<br /> <br /> 65 Genetic disorders of the immune system 170<br /> <br /> 66 Autoimmunity, HLA and transplantation 173<br /> <br /> Part 13 Molecular diagnosis<br /> <br /> 67 DNA hybridization–based analysis systems 176<br /> <br /> 68 DNA sequencing 179<br /> <br /> 69 The polymerase chain reaction 182<br /> <br /> 70 DNA profiling 184<br /> <br /> Part 14 Genetic counselling, disease management, ethical and social issues<br /> <br /> 71 Reproductive genetic counselling 186<br /> <br /> 72 Prenatal sampling 188<br /> <br /> 73 Avoidance and prevention of disease 191<br /> <br /> 74 Management of genetic disease 194<br /> <br /> 75 Ethical and social issues in clinical genetics 197<br /> <br /> Self–assessment case studies: questions 200<br /> <br /> Self–assessment case studies: answers 205<br /> <br /> Glossary 214<br /> <br /> Appendix 1: the human karyotype 219<br /> <br /> Appendix 2: information sources and resources 220<br /> <br /> Index 222</p>