Medical Genetics at a Glance

Description

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 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 identifi cation 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

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

Part 14 Genetic counselling, disease management, ethical and social issues

• 71 Reproductive genetic counselling 186
• 72 Prenatal sampling 188
• 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