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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 ...
