Medical Genetics at a Glance

Dorian J. Pritchard 지음

Wiley-Blackwell 2013년 07월 08일 출간

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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: bull;Three new chapters on Gene Identification, The Biology of Cancer, and Genomic Approaches to Cancerbull;A much extended treatment of Biochemical Geneticsbull;A completely revised chapter on The Cell Cycle, explaining principles of biochemistry and genetics which are fundamental to understanding cancer causationbull;Two new chapters on Cardiac Developmental Pathologybull;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.

목차

Preface to the first edition 7Preface to the third edition 7Acknowledgements 8List of abbreviations 9Part 1 Overview1 The place of genetics in medicine 12Part 2 The Mendelian approach2 Pedigree drawing 143 Mendel&'s laws 164 Principles of autosomal dominant inheritance and pharmacogenetics 195 Autosomal dominant inheritance, clinical examples 226 Autosomal recessive inheritance, principles 257 Consanguinity and major disabling autosomal recessive conditions 288 Autosomal recessive inheritance, life-threatening conditions 319 Aspects of dominance 3410 X-linked and Y-linked inheritance 3611 X-linked inheritance, clinical examples 3812 Mitochondrial inheritance 4013 Risk assessment in Mendelian conditions 42Part 3 Basic cell biology14 The cell 4415 The chromosomes 4616 The cell cycle 4817 Biochemistry of the cell cycle 5018 Gametogenesis 52Part 4 Basic molecular biology 19 DNA structure 5420 DNA replication 5621 The structure of genes 5822 Production of messenger RNA 6023 Non-coding RNA 6224 Protein synthesis 64Part 5 Genetic variation25 Types of genetic alterations 6626 Mutagenesis and DNA repair 6827 Genomic imprinting 7028 Dynamic mutation 7329 Normal polymorphism 7630 Allele frequency 79Part 6 Organization of the human genome31 Genetic linkage and genetic association 8232 Physical gene mapping 8433 Gene identifi cation 8634 Clinical application of linkage and association 88Part 7 Cytogenetics

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저자(글) Dorian J. Pritchard

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