The long awaited second edition of a bestselling book! Using beautiful, clear graphics, this Thieme Flexibook explores the fundamentals of genetics, including the molecular, cellular, and chromosomal basis of genetics and gene expression. The structure, function, and evolution of genes and gene systems are also described. A major section covers the important functional areas of particular relevance in the medical field (embryonic development, cellular signal transmission, immune system, oxygen-transmitting gene systems, growth factors, carcinogenic genes, and numerous other functions).Praise for the first edition:"This is not just another book about genetics but is an excellent addition to the available texts. - Journal of Medical Genetics"
Author(s): Eberhard Passarge
Series: Thieme flexibook
Edition: 2nd ed., enl. and rev
Publisher: Thieme
Year: 2001
Language: English
Pages: 469
City: Stuttgart; New York
Cover Page......Page 1
Title Page......Page 4
ISBN 0-86577-958-9......Page 5
Preface......Page 6
Acknowledgements......Page 7
Table of Contents (Overview)......Page 8
Formal Genetics......Page 9
Cell-to-Cell Interactions......Page 10
A Brief Guide to Genetic Diagnosis......Page 11
Index......Page 12
Introduction......Page 14
Advances that Contributed to the Development of Genetics......Page 25
Part I. Fundamentals......Page 31
The Cell and Its Components......Page 32
Some Types of Chemical Bonds......Page 34
Carbohydrates......Page 36
Lipids (Fats)......Page 38
Nucleotides and Nucleic Acids......Page 40
Amino Acids......Page 42
Proteins......Page 44
DNA as Carrier of Genetic Information......Page 46
DNA and Its Components......Page 48
DNA Structure......Page 50
Alternative DNA Structures......Page 52
DNA Replication......Page 54
The Flow of Genetic Information: Transcription and Translation......Page 56
Genes and Mutation......Page 58
Genetic Code......Page 60
The Structure of Eukaryotic Genes......Page 62
DNA Sequencing......Page 64
Automated DNA Sequencing......Page 66
DNA Cloning......Page 68
cDNA Cloning......Page 70
DNA Libraries......Page 72
Restriction Analysis by Southern Blot Analysis......Page 74
Restriction Mapping......Page 76
DNA Amplification by Polymerase Chain Reaction (PCR)......Page 78
Changes in DNA......Page 80
Mutation Due to Different Base Modifications......Page 82
DNA Polymorphism......Page 84
Recombination......Page 86
Transposition......Page 88
Trinucleotide Repeat Expansion......Page 90
DNA Repair......Page 92
Xeroderma Pigmentosum......Page 94
Isolation of Mutant Bacteria......Page 96
Recombination in Bacteria......Page 98
Bacteriophages......Page 100
DNA Transfer between Cells......Page 102
Viruses......Page 104
Replication Cycle of Viruses......Page 106
RNA Viruses: Genome, Replication, Translation......Page 108
DNA Viruses......Page 110
Retroviruses......Page 112
Retrovirus Integration and Transcription......Page 114
Yeast: Eukaryotic Cells with a Diploid and a Haploid Phase......Page 116
Mating Type Determination in Yeast Cells and Yeast Two-Hybrid System......Page 118
Functional Elements in Yeast Chromosomes......Page 120
Artificial Chromosomes for Analyzing Complex Genomes......Page 122
Cell Cycle Control......Page 124
Cell Division: Mitosis......Page 126
Maturation Division (Meiosis)......Page 128
Crossing-Over in Prophase I......Page 130
Formation of Gametes......Page 132
Cell Culture......Page 134
Genetically Controlled Energy-Delivering Processes in Mitochondria......Page 136
The Genome in Chloroplasts and Mitochondria......Page 138
The Mitochondrial Genome of Man......Page 140
Mitochondrial Diseases......Page 142
The Mendelian Traits......Page 144
Distribution (Segregation) of Mendelian Traits......Page 146
Independent Distribution of Two Different Traits......Page 148
Phenotype and Genotype......Page 150
Segregation of Parental Genotypes......Page 152
Monogenic Inheritance......Page 154
Linkage and Recombination......Page 156
Genetic Distance between Two Gene Loci and Recombination Frequency......Page 158
Segregation Analysis with Genetic Markers......Page 160
Linkage Analysis......Page 162
Quantitative Differences in Genetic Traits......Page 164
Normal Distribution and Polygenic Threshold Model......Page 166
Distribution of Genes in a Population......Page 168
Hardy-Weinberg Equilibrium......Page 170
Consanguinity and Inbreeding......Page 172
Twins......Page 174
Polymorphism......Page 176
Biochemical Polymorphism......Page 178
Geographical Distribution of Genes......Page 180
Nucleosomes......Page 182
DNA in Chromosomes......Page 184
Polytene Chromosomes......Page 186
DNA in Lampbrush Chromosomes......Page 188
Correlation of Structure and Function in Chromosomes......Page 190
Special Structure at the Ends of a Chromosome: the Telomere......Page 192
Metaphase Chromosomes......Page 194
Karyotype......Page 196
The G- and R-Banding Patterns of the Human Metaphase Chromosomes......Page 198
Designation of Chromosomal Aberrations......Page 200
Preparation of Metaphase Chromosomes for Analysis......Page 202
In Situ Hybridization in Metaphase and Interphase......Page 204
Specific Metaphase Chromosome Identification......Page 206
Numerical Chromosome Aberrations......Page 208
Translocation......Page 210
Different Types of Structural Chromosomal Aberrations......Page 212
Detection of Structural Chromosomal Aberrations by Molecular Methods......Page 214
The Cell Nucleus and Ribosomal RNA......Page 216
Transcription......Page 218
Control of Gene Expression in Bacteria by Induction......Page 220
Control of Gene Expression in Bacteria by Repression......Page 222
Control of Transcription......Page 224
Transcription Control in Eukaryotes......Page 226
Regulation of Gene Expression in Eukaryotes......Page 228
DNA-Binding Proteins......Page 230
Other Transcription Activators......Page 232
Inhibitors of Transcription and Translation......Page 234
DNA Methylation......Page 236
Genomic Imprinting......Page 238
X-Chromosome Inactivation......Page 240
Targeted Gene Disruption in Transgenic Mice......Page 242
Genomics, the Study of the Organization of Genomes......Page 246
The Complete Sequence of the Escherichia coli Genome......Page 248
Genome of a Plasmid from a Multiresistant Corynebacterium......Page 250
Genome Maps......Page 252
Approach to Genome Analysis......Page 254
Organization of Eukaryotic Genomes......Page 256
Gene Identification......Page 258
The Human Genome Project......Page 260
Identification of a Coding DNA Segment......Page 262
The Dynamic Genome: Mobile Genetic Elements......Page 264
Evolution of Genes and Genomes......Page 266
Comparative Genomics......Page 268
Human Evolution......Page 270
Genome Analysis by DNA Microarrays......Page 272
Part II. Genomics......Page 245
Part III. Genetics and Medicine......Page 275
Intracellular Signal Transduction Systems......Page 276
Types of Cell Surface Receptors......Page 278
G Protein-coupled Receptors......Page 280
Transmembrane Signal Transmitters......Page 282
Receptors of Neurotransmitters......Page 284
Genetic Defects in Ion Channels......Page 286
Chloride Channel Defects: Cystic Fibrosis......Page 288
Rhodopsin, a Photoreceptor......Page 290
Mutations in Rhodopsin......Page 292
Color Vision......Page 294
Hearing and Deafness......Page 296
Odorant Receptor Gene Family......Page 298
Mammalian Taste Receptor Gene Family......Page 300
Developmental Mutants in Drosophila......Page 302
Homeobox Genes......Page 304
Genetics in a Lucent Vertebrate Embryo: Zebrafish......Page 306
Developmental Program for Individual Cells in the Nematode C. elegans......Page 308
Developmental Genes in a Plant Embryo......Page 310
Components of the Immune System......Page 312
Immunoglobulin Molecules......Page 314
Genetic Diversity Generated by Somatic Recombination......Page 316
Mechanisms in Immunoglobulin Gene Rearrangement......Page 318
Genes of the MHC Region......Page 320
T-Cell Receptors......Page 322
Evolution of the Immunoglobulin Supergene Family......Page 324
Hereditary and Acquired Immune Deficiencies......Page 326
Influence of Growth Factors on Cell Division......Page 0
Influence of Growth Factors on Cell Division......Page 328
Tumor Suppressor Genes......Page 330
Cellular Oncogenes......Page 332
The p53 Protein, a Guardian of the Genome......Page 334
Neurofibromatosis 1 and 2......Page 336
APC Gene in Familial Polyposis Coli......Page 338
Breast Cancer Susceptibility Genes......Page 340
Retinoblastoma......Page 342
Fusion Gene as Cause of Tumors: CML......Page 344
Genomic Instability Syndromes......Page 346
Hemoglobin......Page 348
Hemoglobin Genes......Page 350
Sickle Cell Anemia......Page 352
Mutations in Globin Genes......Page 354
The Thalassemias......Page 356
Hereditary Persistence of Fetal Hemoglobin (HPFH)......Page 358
DNA Analysis in Hemoglobin Disorders......Page 360
Peroxisomal Diseases......Page 362
Lysosomes and Endocytosis......Page 364
Diseases Due to Lysosomal Enzyme Defects......Page 366
Mucopolysaccharide Storage Diseases......Page 368
Familial Hypercholesterolemia......Page 370
Mutations in the LDL Receptor......Page 372
Insulin and Diabetes Mellitus......Page 374
Protease Inhibitor......Page 376
Blood Coagulation Factor VIII (Hemophilia A)......Page 378
VonWillebrand Factors......Page 380
Cytochrome P450 Genes......Page 382
Pharmacogenetics......Page 384
Cytoskeletal Proteins in Erythrocytes......Page 386
Hereditary Muscle Diseases......Page 388
Duchenne Muscular Dystrophy......Page 390
Collagen Molecules......Page 392
Osteogenesis Imperfecta......Page 394
Molecular Basis of Bone Development......Page 396
Sex Determination......Page 398
Sex Differentiation......Page 400
Disorders of Sexual Development......Page 402
Congenital Adrenal Hyperplasia......Page 404
Unstable Number of Trinucleotide Repeats......Page 406
Fragile X Syndrome......Page 408
Imprinting Diseases......Page 410
Autosomal Trisomies......Page 412
Other Numerical Chromosomal Deviations......Page 414
Deletions and Duplications......Page 416
Principles......Page 418
Detection of Mutations without Sequencing......Page 420
Chromosomal Location of Human Genetic Diseases......Page 422
Chromosomal Location of Human Genetic Diseases (Alphabetic list to the maps on pp. 410–415)......Page 428
General References......Page 433
Glossary......Page 435
B......Page 454
C......Page 455
D......Page 457
F......Page 458
G......Page 459
H......Page 460
I......Page 461
M......Page 462
P......Page 464
S......Page 466
T......Page 467
U,V......Page 468
W,X,Y,Z......Page 469
