# Paperback: 496 pages
# Publisher: Thieme Medical Publishers; 3rd edition (January 6, 2006)
# Language: English
# ISBN-10: 1588903362
# ISBN-13: 978-1588903365
American Journal of Medical Genetics
A remarkable achievement...concise but informative...No geneticist or
physician should be without a copy of this remarkable edition. --This
text refers to the Paperback edition.
Book Description
A remarkable achievement by a single author...concise but
informative...No geneticist or physician interested in genetic diseases
should be without a copy of this remarkable edition." --American
Journal of Medical Genetics understanding of genetics is a fundamental element of all medical and
scientific educational programs, across virtually all disciplines. And
the applications--and implications--of genetic research are at the
heart of current medical scientific debates. Completely updated and
revised, The Color Atlas of Genetics is an invaluable guide for
students of medicine and biology, clinicians, and anyone else
interested in this rapidly evolving field.
With more than 200
absorbing full-color plates concisely explained on facing pages, the
atlas offers readers an easy-to-use, yet remarkably detailed guide to
key molecular, theoretical, and medical aspects of genetics and
genomics. Brief descriptions of numerous genetic diseases are included,
with references for more detailed information.
Readers will find
that this incomparable book presents a comprehensive picture of the
field from its fascinating history to its most advanced applications.
Introduction
Chronology
Important Advances that Contributed
to the Development of Genetics
Part I. Fundamentals
Prologue
Taxonomy of Living Organisms:
The Tree of Life
Human Evolution
The Cell and Its Components
Molecular Basis of Genetics
Some Types of Chemical Bonds
Carbohydrates
Lipids (Fats)
Nucleotides and Nucleic Acids
Amino Acids
Proteins
DNA as a Carrier of Genetic
Information
DNA and Its Components
DNA Structure
Alternative DNA Structures
DNA Replication
The Flow of Genetic Information:
Transcription and Translation
Genes and Mutation
Genetic Code
Processing of RNA
DNA Amplification by Polymerase
Chain Reaction (PCR)
DNA Sequencing
Automated DNA Sequencing
Restriction Mapping
DNA Cloning
cDNA Cloning
DNA Libraries
Southern Blot Hybridization
Detection of Mutations
without Sequencing
DNA Polymorphism
Mutations
Mutations Due to Different Base
Modifications
Recombination
Transposition
Trinucleotide Repeat Expansion
DNA Repair
Xeroderma Pigmentosum
Prokaryotic Cells and Viruses
Bacteria in the Study of Genetics
Recombination in Bacteria
Bacteriophages
DNA Transfer between Cells
Classification of Viruses
Replication of Viruses
Retroviruses
Retrovirus Integration and
Transcription
Eukaryotic Cells
Cell Communication
Yeast: Eukaryotic Cells with a Diploid
and a Haploid Phase
Mating Type Determination in
Yeast Cells and Yeast Two-Hybrid
System
Cell Division: Mitosis
Meiosis in Germ Cells
Meiosis Prophase I
Formation of Gametes
Cell Cycle Control
Programmed Cell Death
Cell Culture
Mitochondrial Genetics
Mitochondria: Energy Conversion
Chloroplasts and Mitochondria
The Mitochondrial Genome
of Man
Mitochondrial Diseases
Formal Genetics
The Mendelian Traits
Segregation of Mendelian Traits
Independent Distribution of Two
Different Traits
Phenotype and Genotype
Segregation of Parental Genotypes
Monogenic Inheritance
Linkage and Recombination
Estimating Genetic Distance
Segregation Analysis with Linked
Genetic Markers
Linkage Analysis
Quantitative Differences in Genetic
Traits
Normal Distribution and Polygenic
Threshold Model
Distribution of Genes in a
Population
Hardy–Weinberg Equilibrium
Principle
Consanguinity and Inbreeding
Twins
Polymorphism
Biochemical Polymorphism
Differences in Geographical
Distribution of Some Alleles
Chromosomes
Chromosomes in Metaphase
Visible Functional Structures
of Chromosomes
Chromosome Organization
Functional Elements of
Chromosomes
DNA and Nucleosomes
DNA in Chromosomes
The Telomere
The Banding Patterns of
Human Chromosomes
Karyotypes of Man and Mouse
Preparation of Metaphase
Chromosomes for Analysis
Fluorescence In-Situ Hybridization
(FISH)
Aneuploidy
Chromosome Translocation
Structural Chromosomal
Aberrations
Multicolor FISH Identification of
Chromosomes
Comparative Genomic
Hybridization
Regulation of Gene Function
Ribosomes and Protein Assembly
Transcription
Prokaryotic Repressor and Activator:
the lac Operon
Genetic Control by Alternative RNA
Structure
Basic Mechanisms of
Gene Control
Regulation of Gene Expression in
Eukaryotes
DNA-Binding Proteins, I
DNA-Binding Proteins, II
RNA Interference (RNAi)
Targeted Gene Disruption
Epigenetic Modifications
DNA Methylation
Reversible Changes in Chromatin
Structure
Genomic Imprinting
Mammalian X Chromosome
Inactivation
Part II. Genomics
Genomics, the Study of the
Organization of Genomes
Gene Identification
Identification of Expressed DNA
Approaches to Genome Analysis
Genomes of Microorganisms
The Complete Sequence of the
Escherichia coli Genome
The Genome of a Multiresistant
Plasmid
Architecture of the Human Genome
The Human Genome Project
Genomic Structure of the Human X
and Y Chromosomes
Genome Analysis with DNA
Microarrays
Genome Scan and Array CGH
The Dynamic Genome: Mobile
Genetic Elements
Evolution of Genes and Genomes
Comparative Genomics
Part III. Genetics and
Medicine
Cell-to-Cell Interactions .
Intracellular Signal Transduction
Signal Transduction Pathways
TGF-_ and Wnt/_-Catenin Signaling
Pathways
The Hedgehog and TNF-α Signal
Transduction Pathways
The Notch/Delta Signaling Pathway
Neurotransmitter Receptors and Ion
Channels
Genetic Defects in Ion Channels:
LQT Syndromes
Chloride Channel Defects: Cystic
Fibrosis
Sensory Perception
Rhodopsin, a Photoreceptor
Mutations in Rhodopsin: Pigmentary
Retinal Degeneration
Color Vision
Auditory System
Odorant Receptors
Mammalian Taste Receptors
Genes in Embryonic Development
Genetic Determination of Embryonic
Development in Drosophila
Cell Lineage in a Nematode,
C. elegans
Developmental Genes in a Plant,
Arabidopsis
Immune System
Components of the Immune
System
Immunoglobulin Molecules
Genetic Diversity Generated by
Somatic Recombination
Mechanisms in Immunoglobulin
Gene Rearrangement
The T-Cell Receptor
Genes of the MHC Region
Evolution of the Immunoglobulin
Supergene Family
Hereditary Immunodeficiencies
Origins of Cancer
Genetic Causes of Cancer:
Background
Categories of Cancer Genes
The p53 Tumor Suppressor Gene
The APC Gene and Polyposis coli
Breast Cancer Susceptibility Genes
Retinoblastoma
The BCR/ABL Fusion Protein
in CML
Neurofibromatosis
Genomic Instability Diseases
Hemoglobin
Hemoglobin
Hemoglobin Genes
Sickle Cell Anemia
Mutations in Globin Genes
The Thalassemias
Hereditary Persistence of Fetal
Hemoglobin (HPFH)
DNA Analysis in Hemoglobin
Disorders
Lysosomes and Peroxisomes
Lysosomes
Diseases Due to Lysosomal Enzyme
Defects
Mucopolysaccharide Storage
Diseases
Peroxisomal Biogenesis Diseases
Cholesterol Metabolism
Cholesterol Biosynthesis Pathway
Distal Cholesterol Biosynthesis
Pathway
Familial Hypercholesterolemia
LDL Receptor Mutations
Homeostasis
Diabetes Mellitus
Protease Inhibitor α1-Antitrypsin
Blood Coagulation Factor VIII
(Hemophilia A)
VonWillebrand Bleeding Disease
Pharmacogenetics
Cytochrome P450 (CYP) Genes
Amino Acid Degradation and Urea
Cycle Disorders
Maintaining Cell and Tissue Shape
Cytoskeletal Proteins in
Erythrocytes
Hereditary Muscle Diseases
Duchenne Muscular Dystrophy
Collagen Molecules
Osteogenesis Imperfecta
Molecular Basis of Bone
Development
Sex Determination and Differentiation
Mammalian Sex Determination
Sex Differentiation
Disorders of Sexual Development
Congenital Adrenal Hyperplasia
Atypical Patterns of Genetic
Transmission
Diseases of Unstable Repeat
Expansion
Fragile X Syndrome
Karyotype–Phenotype Relationship
Autosomal Trisomies
Other Numerical Chromosomal
Deviation
Autosomal Deletion Syndromes
A Brief Guide to Genetic Diagnosis
Principles of Genetic Diagnostics
Gene and Stem Cell Therapy
Morbid Anatomy of the Human
Genome
Chromosomal Location of Human
Genetic Diseases
Chromosomal Location—Alphabetical
List
Appendix—Supplementary
Data
Glossary