Dorian J. Pritchard, Bruce R. Korf

Medical Genetics at a Glance (eBook, ePUB)

• Format: ePub

Produktbeschreibung

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.

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Produktdetails

• Verlag: John Wiley & Sons
• Seitenzahl: 232
• Erscheinungstermin: 8. Juli 2013
• Englisch
• ISBN-13: 9781118689011
• Artikelnr.: 39120043

Autorenporträt

Dorian J. Pritchard is former lecturer in Human Genetics, University of Newcastle-upon-Tyne, UK and former Visiting Lecturer in Medical Genetics, International Medical University, Kuala Lumpur, Malaysia. Bruce Korf is Wayne H. and Sara Crews Finley Chair in Medical Genetics, Professor and Chair, Department of Genetics, and Director of the Heflin Center for Genomic Sciences at the University of Alabama at Birmingham, USA.

Inhaltsangabe

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

Rezensionen

"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." (Newbooks.lib, 2 September 2014)