Medical Genetics At a Glance

Informationen zum Autor 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. Klappentext 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 sectionProviding 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. Zusammenfassung 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. Inhaltsverzeichnis 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 ...

List 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 syste

Report

"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)

Product details

• Authors: Bruce R Korf, Bruce R. Korf, Korf Bruce R., Dorian J Pritchard, Dorian J. Pritchard, Dorian J. (University of Newcastle Upon Pritchard, Dorian J. Korf Pritchard, Pritchard Dorian J.
• Publisher: Wiley, John and Sons Ltd
• Languages: English
• Product format: Paperback / Softback
• Released: 03.05.2013
• EAN: 9780470656549
• ISBN: 978-0-470-65654-9
• No. of pages: 216
• Series: At a Glance
• Subjects: Natural sciences, medicine, IT, technology > Medicine > General; Genetik, Medizin, Medical Genetics, Medical Science, Basic Medical Sciences, Medizinische Grundlagenfächer, Medizinische Genetik