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BK

Third edition

Chichester : Wiley-Blackwell, 2013

231 stran : ilustrace ; 28 cm

ISBN 978-0-470-65654-9 (brožováno)

At a glance series

Terminologický slovník

Obsahuje rejstřík

001452376

Contents // Preface to the first edition 7 // Preface to the third edition 7 // Acknowledgements 8 // List of abbreviations 9 // Part 1 Overview // 1 The place of genetics in medicine 12 // Part 2 The Mendelian approach // 2 Pedigree drawing 14 // 3 Mendel’s laws 16 // 4 Principles of autosomal dominant inheritance and // pharmacogenetics 19 // 5 Autosomal dominant inheritance, clinical // examples 22 // 6 Autosomal recessive inheritance, principles 25 // 7 Consanguinity and major disabling autosomal // recessive conditions 28 // 8 Autosomal recessive inheritance, life-threatening // conditions 31 // 9 Aspects of dominance 34 // 10 X-linked and Y-linked inheritance 36 // 11 X-linked inheritance, clinical examples 38 // 12 Mitochondrial inheritance 40 // 13 Risk assessment in Mendelian conditions 42 // Part 3 Basic cell biology // 14 The cell 44 // 15 The chromosomes 46 // 16 The cell cycle 48 // 17 Biochemistry of the cell cycle 50 // 18 Gametogenesis 52 // Part 4 Basic molecular biology // 19 DNA structure 54 // 20 DNA replication 56 // 21 The structure of genes 58 // 22 Production of messenger RNA 60 // 23 Non-coding RNA 62 // 24 Protein synthesis 64 // Part 5 Genetic variation // 25 Types of genetic alterations 66 // 26 Mutagenesis and DNA repair 68 // 27 Genomic imprinting 70 // 28 Dynamic mutation 73 // 29 Normal polymorphism 76 // 30 Allele frequency 79 // Part 6 Organization of the human genome // 31 Genetic linkage and genetic association 82 // 32 Physical gene

mapping 84 // 33 Gene identification 86 // 34 Clinical application of linkage and // association 88 // Part 7 Cytogenetics // 35 Chromosome analysis 90 // 36 Autosomal aneuploidies 92 // 37 Sex chromosome aneuploidies 94 // 38 Chromosome structural abnormalities 96 // 39 Chromosome structural abnormalities, // clinical examples 98 // 40 Contiguous-gene and single-gene // syndromes 102 // Part 8 Embryology and congenital // abnormalities // 41 Human embryology in outline 106 // 42 Body patterning 108 // 43 Sexual differentiation 110 // 44 Abnormalities of sex determination 112 // 45 Congenital abnormalities, pre-embryonic, // embryonic and of intrinsic causation 114 // 46 Congenital abnormalities arising at // the fetal stage 117 // 47 Development of the heart 120 // 48 Cardiac abnormalities 122 // 49 Facial development and dysmorphology 124 // Part 9 Multifactorial inheritance and // twin studies // 50 Principles of multifactorial disease 127 // 51 Multifactorial disease in children 130 // 52 Common disorders of adult life 133 // 53 Twin studies 136 // Part 10 Cancer // 54 The signal transduction cascade 138 // 55 The eight hallmarks of cancer 140 // 56 Familial cancers 142 // 57 Genomic approaches to cancer // management 144 // Part 11 Biochemical genetics // 58 Disorders of amino acid metabolism 146 // 59 Disorders of carbohydrate metabolism 149 // 60 Metal transport, lipid metabolism and amino acid // catabolism defects 152 // 61 Disorders of porphyrin and purine metabolism

and // the urea/ornithine cycle 156 // 62 Lysosomal, glycogen storage and peroxisomal // diseases 160 // 63 Biochemical diagnosis 165 // Contents 5 // Part 12 Immunogenetics // 64 Immunogenetics, cellular and molecular aspects 168 // 65 Genetic disorders of the immune system 170 // 66 Autoimmunity, HLA and transplantation 173 // Part 13 Molecular diagnosis // 67 DNA hybridization-based analysis systems 176 // 68 DNA sequencing 179 . // 69 The polymerase chain reaction 182 // 70 DNA profiling 184 // 73 Avoidance and prevention of disease 191 // 74 Management of genetic disease 194 // 75 Ethical and social issues in clinical genetics 197 // Self-assessment case studies: questions 200 // Self-assessment case studies: answers 205 // Glossary 214 // Appendix 1: the human karyotype 219 // Appendix 2: information sources and resources 220 // Index 222 // Part 14 Genetic counselling, disease management, // ethical and social issues // 71 Reproductive genetic counselling 186 // 72 Prenatal sampling 188 // 6 Contents