an introduction to genetic analysis sixth editionPDF电子书下载

1 GENETICS AND THE ORGANISM 1

Genetics and Human Affairs 3

Genetics and Biology 7

Genes and Environment 11

Techniques of Genetic Analysis 17

2 MENDELIAN ANALYSIS 21

Mendel’s Experiments 22

Simple Mendelian Genetics in Humans 32

Simple Mendelian Genetics in Agriculture 37

Variants and Genetic Dissection 40

3 CHROMOSOME THEORY OF INHERITANCE 55

Mitosis and Meiosis 56

The Chromosome Theory of Heredity 62

Sex Chromosomes and Sex Linkage 70

The Parallel Behavior of Autosomal Genes and Chromosomes 76

Mendelian Genetics and Life Cycles 76

4 EXTENSIONS OF MENDELIAN ANALYSIS 91

Variations on Dominance 92

Multiple Alleles 93

Lethal Alleles 95

Several Genes Affecting the Same Character 98

Penetrance and Expressivity 108

5 LINKAGE Ⅰ：BASIC EUKARYOTIC CHROMOSOME MAPPING 123

The Discovery of Linkage 124

Recombination 126

Linkage Symbolism 127

Linkage of Genes on the X Chromosome 128

Linkage Maps 129

Three-Point Testcross 131

Interference 134

Calculating Recombinant Frequencies from Selfed Dihybrids 135

Examples of Linkage Maps 135

The X2 Test 137

The Nature of Crossing-Over 140

Linkage Mapping by Recombination in Humans 142

6 LINKAGE Ⅱ：SPECIAL EUKARYOTIC CHROMOSOME MAPPING TECHNIQUES 155

Accurate Calculation of Large Map Distances 156

Analysis of Single Meioses 159

Mitotic Segregation and Recombination 167

7 GENE MUTATION 181

Somatic versus Germinal Mutation 182

Mutant Types 184

The Occurrence of Mutations 187

Selective Systems 191

Mutation Induction 197

Mutation and Cancer 199

Mutagens in Genetic Dissection 201

Mutation Breeding 203

8 CHROMOSOME MUTATION Ⅰ：CHANGES IN CHROMOSOME STRUCTURE 211

The Topography of Chromosomes 213

Types of Changes in Chromosome Structure 216

Chromosomal Rearrangements in Evolution 234

9 CHROMOSOME MUTATION Ⅱ：CHANGES IN NUMBER 249

Aberrant Euploidy 250

Aneuploidy 258

Chromosome Mechanics in Plant Breeding 266

10 RECOMBINATION IN BACTERIA AND THEIR VIRUSES 275

Working with Microorganisms 276

Bacterial Conjugation 277

Bacterial Recombination and Mapping the E.coli Chromosome 286

Bacterial Transformation 290

Bacteriophage Genetics 291

Transduction 298

Chromosome Mapping 302

Bacterial Gene Transfer in Review 302

11 THE STRUCTURE OF DNA 313

DNA：The Genetic Material 314

The Structure of DNA 315

Replication of DNA 321

Mechanism of DNA Replication 326

DNA Replication in Eukaryotes 332

DNA and the Gene 334

12 THE NATURE OF THE GENE 341

How Genes Work 342

Gene-Protein Relationships 345

Genetic Fine Structure 358

Mutational Sites 364

Complementation 369

13 DNA FUNCTION 383

Transcription 384

Translation 389

The Genetic Code 392

Protein Synthesis 399

Universality of Genetic Information Transfer 406

Eukaryotic RNA 408

Mechanism of Gene Splicing 412

Review 416

14 RECOMBINANT DNA TECHNOLOGY 423

Making Recombinant DNA 424

Cloning a Specific Gene 430

Fractionation of DNA by Electrophoresis 442

DNA Sequence Determination 444

The Polymerase Chain Reaction 448

Restriction Maps 449

15 APPLICATIONS OF RECOMBINANT DNA TECHNOLOGY 459

In Vitro Mutagenesis 460

Gene Synthesis 462

Expressing Eukaryotic Genes in Bacteria 463

Reverse Genetics 464

Recombinant DNA Technology in Eukaryotes 465

Gene Therapy 478

Recombinant DNA and Screening for Genetic Diseases 482

16 THE STRUCTURE AND FUNCTION OF EUKARYOTIC CHROMOSOMES 493

Genome Size in Eukaryotes 494

One DNA Molecule per Chromosome 494

The Role of Histone Proteins in Packaging DNA 497

Higher-Order Coiling 497

Heterochromatin and Euchromatin 500

Chromosome Bands 501

Centromeric DNA 502

Sequence Organization 504

Replication and Transcription of Chromatin 513

17 GENOMICS 519

Assigning Loci to Specific Chromosomes 520

Chromosome Mapping 524

Physical Mapping of Genomes 530

Genetic Analysis Using Physical Maps 533

Genome Sequencing 536

18 CONTROL OF GENE EXPRESSION 545

Basic Control Circuits 546

Discovery of the lac System：Negative Control 547

Catabolite Repression of the lac Operon：Positive Control 554

Dual Positive and Negative Control：The Arabinose Operon 555

Metabolic Pathways 558

The Tryptophan Genes：Negative Control with Superimposed Attenuation 559

The λ Phage：A Complex of Operons 562

Multioperon Repression 564

Structure of Regulatory Proteins 564

Transcription：Gene Regulation in Eukaryotes—An Overview 564

Cis Control of Transcription 566

Trans Control of Transcription 568

Regulation of Transcription Factors 573

5-Methylcytosine Regulation 575

Post-Transcriptional Control 575

Control of Ubiquitous Molecules in Eukaryotic Cells 576

19 MECHANISMS OF GENETIC CHANGE Ⅰ：GENE MUTATION 583

The Molecular Basis of Gene Mutations 585

Spontaneous Mutations 586

Induced Mutations 593

Reversion Analysis 600

The Relationship between Mutagens and Carcinogens 600

Repair Defects and Human Diseases 612

20 MECHANISMS OF GENETIC CHANGE Ⅱ：RECOMBINATION 617

General Homologous Recombination 618

The Holliday Model 619

Enzymatic Mechanism of Recombination 626

Site-Specific Recombination 630

Recombination and Chromosomal Rearrangements 631

Duplication and Evolution 631

21 MECHANISMS OF GENETIC CHANGE Ⅲ：TRANSPOSABLE GENETIC ELEMENTS 637

Insertion Sequences 638

Transposons 640

Phage Mu 644

Mechanism of Transposition 644

Rearrangements Mediated by Transposable Elements 646

Review of Transposable Elements in Prokaryotes 648

Ty Elements in Yeast 650

Transposable Elements in Drosophila 650

Retroviruses 653

Transposition via an RNA Intermediate 655

Controlling Elements in Maize 656

Review of Transposable Elements inEukaryotes 660

22 THE EXTRANUCLEAR GENOME 663

Extranuclear Inheritance in Higher Plants 665

Extranuclear Inheritance in Fungi 666

Shell Coiling in Snails：A Red Herring 668

Extranuclear Genes in Chlamydomonas 668

Mitochondrial Genes in Yeast 672

An Overview of the Mitochondrial Genome 676

An Overview of the Chloroplast Genome 678

Mitochondrial Diseases in Humans 680

Extragenomic Plasmids in Eukaryotes 680

How Many Copies？ 683

23 GENE REGULATION DURING DEVELOPMENT 693

Regulating the Synthesis of Proteins 694

Tissue-Specific Regulation at the Level of DNA Structure 694

Regulation of Gene Transcription 695

Transcript Processing and Tissue-Specific Regulation 696

Post-transcriptional Regulation 697

Post-translational Regulation 698

Epigenetic Inheritance 698

Dissecting Eukaryotic Regulatory Elements 700

Regulatory Elements and Dominant Mutations 703

Regulatory Cascades：Applying Regulatory Mechanisms to Developmental Decisions 704

The Sex Determination Pathway in Drosophila 705

Sex Determination in Mammals 709

The Pathway of Antibody Production：DNA Gene Rearrangement and Antibody Diversity 712

24 GENETICS AND CELLULAR DIFFERENTIATION 719

The Cytoskeleton and Cellular Architecture 720

The Cell Cycle 725

Intercellular Communication 729

Cancer：A Genetic Disease of Somatic Cells 736

25 DEVELOPMENTAL GENETICS：CELL FATE AND PATTERN FORMATION 747

Pattern Formation：The Establishment of the Basic Animal Body Plan 748

A Sneak Preview of Pattern Formation 748

Investigating Early Development 750

A Synopsis of Early Drosophila Development 751

Establishing Positional Information 754

The A/P Morphogens 755

The D/V Morphogen 758

The Establishment of Polarity in the Oocyte 760

The Initial Response to Positional Information 761

Refining the Initial Patterning Decisions 762

A Cascade of Regulatory Events 764

Determination of Segment Identity 766

Homeotic Mutations and the Establishment of Segmental Identity 766

Applying the Fly Lesson to Other Organisms：Mouse Molecular Genetics 769

26 POPULATION GENETICS 779

Darwin’s Revolution 780

Variation and Its Modulation 780

The Effect of Sexual Reproduction on Variation 789

The Sources of Variation 791

Selection 797

Balanced Polymorphism 802

Multiple Adaptive Peaks 804

Artificial Selection 805

Random Events 807

A Synthesis of Forces 808

The Origin of Species 811

27 QUANTITATIVE GENETICS 817

Some Basic Statistical Notions 819

Genotypes and Phenotypic Distribution 826

Norm of Reaction and Phenotypic Distribution 828

The Heritability of a Trait 830

Quantifying Heritability 831

Determining Norms of Reaction 835

Locating the Genes 838

Gene Action 840

More on Analyzing Variance 842

FURTHER READING 851

GLOSSARY 859

ANSWERS TO SELECTED PROBLEMS 880

INDEX 901