Medical Genetics at a Glance

Medical Genetics at a Glance covers the core scientific principles necessary for an understanding of medical genetics and its clinical applications, while also considering the social implications of genetic disorders. This third edition has been fully updated to include the latest developments in the field, covering the most common genetic anomalies, their diagnosis and management, in clear, concise and revision–friendly sections to complement any health science course. Medical Genetics at a Glance now has a completely revised structure, to make its content even more accessible. Other features include: • Three new chapters on Gene Identification, The Biology of Cancer, and Genomic Approaches to Cancer • A much extended treatment of Biochemical Genetics • A completely revised chapter on The Cell Cycle, explaining principles of biochemistry and genetics which are fundamental to understanding cancer causation • Two new chapters on Cardiac Developmental Pathology • An extended Case Studies section Providing a broad understanding of one of the most rapidly progressing topics in medicine, Medical Genetics at a Glance is perfect for students of medicine, molecular biology, genetics and genetic counselling, and is a previous winner of a BMA Award. Table of Contents Preface to the first edition Preface to the third edition Acknowledgements List of abbreviations Part 1 Overview 1 The place of genetics in medicine Part 2 The Mendelian approach 2 Pedigree drawing 3 Mendel’s laws 4 Principles of autosomal dominant inheritance, and pharmacogenetics 5 Autosomal dominant inheritance, clinical examples 6  Autosomal recessive inheritance, principles 7 Consanguinity and major disabling autosomal recessive conditions 8 Autosomal recessive inheritance, life–threatening conditions 9 Aspects of dominance 10 X–linked and Y–linked inheritance 11 X–linked inheritance, clinical examples 12 Mitochondrial inheritance 13 Risk assessment in Mendelian conditions Part 3 Basic cell biology 14 The cell 15 The chromosomes 16 The cell cycle 17 Gametogenesis Part 4 Basic molecular biology 18 DNA structure 19 DNA replication 20 The structure of genes 21 Production of messenger RNA 22 Non–coding RNA 23 Protein synthesis Part 5 Genetic variation 24 Types of genetic alterations 25 Mutagenesis and DNA repair 26 Genomic imprinting 27 Dynamic mutation 28 Normal polymorphism 29 Allele frequency Part 6 Organization of the human genome 30 Genetic linkage and genetic association 31 Physical gene mapping 32 Gene identification 33 Clinical application of linkage and association Part 7 Cytogenetics 34 Chromosome analysis 35 Autosomal aneuploidies 36 Sex chromosome aneuploidies 37 Chromosome structural abnormalities 38 Chromosome structural abnormalities, clinical examples 39 Contiguous gene and single gene syndromes Part 8 Embryology and congenital abnormalities 40 Human embryology in outline 41 Body patterning 42 Sexual differentiation 43 Abnormalities of sex determination 44 Congenital abnormalities, pre–embryonic, embryonic and of intrinsic causation 45 Congenital abnormalities arising at the foetal stage 46 Development of the heart 47 Cardiac abnormalities 48 Facial development and dysmorphology Part 9 Multifactorial inheritance and twin studies 49 Principles of multifactorial disease 50 Multifactorial disease in children 51 Common disorders of adult life 52 Twin studies Part 10 Cancer 53 The signal transduction cascade 54 The eight hallmarks of cancer 55 Familial cancers 56 Genomic approaches to cancer management Part 11 Biochemical genetics 57 Disorders of amino acid metabolism 58 Disorders of carbohydrate metabolism 59 Metal transport, lipid metabolism and amino acid catabolism defects 60 Disorders of porphyrin and purine metabolism and the urea/ornithine cycle 61 Lysosomal, glycogen storage and peroxisomal diseases 62 Biochemical diagnosis Part 12 Immunogenetics 63 Immunogenetics, cellular and molecular aspects 64 Genetic disorders of the immune system 65 Autoimmunity, HLA and transplantation Part 13 Molecular diagnosis 66 DNA hybridization–based analysis systems 67 DNA sequencing 68 The polymerase chain reaction 69 DNA profiling Part 14 Genetic counselling, disease management, ethical and social issues 70 Reproductive genetic counseling 71 Prenatal sampling 72 Avoidance and prevention of disease 73 Management of genetic disease 74 Ethical and social issues in clinical genetics Part 15 Self–assessment Self–assessment case studies: questions Self–assessment case studies: answers Glossary Appendix: information sources and resources Index