Introduction to genetic analysis:
Gespeichert in:
| Format: | Buch |
|---|---|
| Sprache: | English |
| Veröffentlicht: |
New York, NY
Freeman
2015
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| Ausgabe: | 11. ed. |
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | XXIII, 868 S. zahlr. Ill., graph. Darst. |
| ISBN: | 9781319153922 9781464109485 1464109486 |
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Datensatz im Suchindex
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| adam_text | Titel: Introduction to genetic analysis
Autor: Griffiths, Anthony J. F
Jahr: 2015
INTRODUCTION TO ELEVENTH EDITION .w^y,S Anthony J. F. Griffiths University of British Columbia Susan R. Wessler University of California, Riverside Sean B. Carroll Howard Hughes Medical Institute University of Wisconsin-Madison John Doebley University of Wisconsin-Madison ? ?W. H. Freeman H Company A Macmillan Education Imprint
| Contents in Brief j Contents Preface xiii 1 The Genetics Revolution 1 PA RT I TRANSMISSION GENETICS 2 Single-Gene Inheritance 31 3 Independent Assortment of Genes 87 4 Mapping Eukaryote Chromosomes by Recombination 127 5 The Genetics of Bacteria and Their Viruses 173 6 Gene Interaction 215 PÀRT II FROM DNA TO PHENOTYPE 7 DNA: Structure and Replication 259 8 RNA: Transcription and Processing 291 9 Proteins and Their Synthesis 319 10 Gene Isolation and Manipulation 351 11 Regulation of Gene Expression in Bacteria and Their Viruses 397 12 Regulation of Gene Expression in Eukaryotes 431 13 The Genetic Control of Development 469 14 Genomes and Genomics 507 H FÎT IN ! MUTATION, VARIATION, AND EVOLUTION 15 The Dynamic Genome: Transposable Elements 547 16 Mutation, Repair, and Recombination 581 17 Large-Scale Chromosomal Changes 617 18 Population Genetics 665 19 The Inheritance of Complex Traits 715 20 Evolution of Genes and Traits 761 A Brief Guide to Model Organisms 759 Appendix A: Genetic Nomenclature 775 Appendix B: Bioinformatics Resources for Genetics and Genomics 776 Glossary 779 Answers to Selected Problems 797 Index 809 Preface xiii Q I he Genetics Revolution 1 1.1 The Birth of Genetics 2 Gregor Mendel—A monk in the garden 3 Mendel rediscovered 5 The central dogma of molecular biology 9 1.2 After Cracking the Code 10 Model organisms 10 Tools for genetic analysis 12 1.3 Genetics Today 14 From classical genetics to medical genomics 14 Investigating mutation and disease risk 17 When rice gets its feet a little too wet 20 Recent evolution In humans 23 PARTI TRANSMISSION GENETICS Q Single-Gene Inheritance 31 2.1 Single-Gene Inheritance Patterns 34 Mendel’s pioneering experiments 34 Mendel’s law of equal segregation 36 2.2 The Chromosomal Basis of Single-Gene Inheritance Patterns 39 Single-gene inheritance in diploids 40 Single-gene inheritance in haploids 44 2.3 The Molecular Basis of Mendelian Inheritance
Patterns 45 Structural differences between alleles at the molecular level 45 Molecular aspects of gene transmission 46 Alleles at the molecular level 48 2.4 Some Genes Discovered by Observing Segregation Ratios 50 A gene active in the development of flower color 51 A gene for wing development 51 A gene for hyphal branching 52 Predicting progeny proportions or parental genotypes by applying the principles of singie-gene inheritance 53 2.5 Sex-Linked Single-Gene Inheritance Patterns 53 Sex chromosomes 54 Sex-linked patterns of inheritance 54 X-llnked inheritance 55 V
VI CONTENTS 2.6 Human Pedigree Analysis 58 Autosomal recessive disorders 59 Autosomal dominant disorders 61 Autosomal polymorphisms 63 X-llnked recessive disorders 65 X-linked dominant disorders 68 Y-linked Inheritance 68 Calculating risks in pedigree analysis 69 ET Independent Assortment of Genes 87 3.1 Mendel’s Law of Independent Assortment 89 3.2 Working with Independent Assortment 93 Predicting progeny ratios 93 Using the chi-square test on monohybrid and dihybrid ratios 96 Synthesizing pure lines 98 Hybrid vigor 99 3.3 The Chromosomal Basis of Independent Assortment 101 Independent assortment in diploid organisms 101 Independent assortment in haploid organisms 103 Independent assortment of combinations of autosomal and X-linked genes 104 Recombination 104 3.4 Polygenic Inheritance 108 3.5 Organelle Genes: Inheritance Independent of the Nucleus 110 Patterns of inheritance in organelles 111 Cytoplasmic segregation 113 Cytoplasmic mutations in humans 115 mtDNA In evolutionary studies 116 ET Mapping Eukaryote Chromosomes by Recombination 127 4.1 Diagnostics of Linkage 129 Using recombinant frequency to recognize linkage 129 How crossovers produce recombinants for linked genes 132 Linkage symbolism and terminology 132 Evidence that crossing over is a breakage-and- rejoining process 133 Evidence that crossing over takes place at the four-chromatid stage 133 Multiple crossovers can include more than two chromatids 134 4.2 Mapping by Recombinant Frequency 135 Map units 136 Three-point testcross 139 Deducing gene order by inspection 141 Interference 141 Using ratios as diagnostics 142 4.3 Mapping with Molecular Markers 144 Single nucleotide polymorphisms 144 Simple sequence length polymorphisms 145 Detecting simple sequence length polymorphisms 146 Recombination analysis using molecular markers 146 4.4 Centromere Mapping with Linear Tetrads 148 4.5 Using the Chi-Square Test to Infer Linkage 150 4.6 Accounting for
Unseen Multiple Crossovers 151 A mapping function 151 The Perkins formula 152 4.7 Using Recombination-Based Maps in Conjunction with Physical Maps 154 4.8 The Molecular Mechanism of Crossing Over 155 Q The Genetics of Bacteria and Their Viruses 173 5.1 Working with Microorganisms 176 5.2 Bacterial Conjugation 177 Discovery of conjugation 177 Discovery of the fertility factor (F) 178 Hfr strains 179 Mapping of bacterial chromosomes 184 F plasmids that carry genomic fragments 188 R plasmids 188 5.3 Bacterial Transformation 191 The nature of transformation 191 Chromosome mapping using transformation 191 5.4 Bacteriophage Genetics 192 Infection of bacteria by phages 192 Mapping phage chromosomes by using phage crosses 194 5.5 Transduction 196 Discovery of transduction 196 Generalized transduction 197 Specialized transduction 198 Mechanism of specialized transduction 200 5.6 Physical Maps and Linkage Maps Compared 201 Q üene Interaction 215 6.1 Interactions Between the Alleles of a Single Gene: Variations on Dominance 216 Complété dominance and recessiveness 216 Incomplète dominance 218 Codominance 219 Récessive léthal alleles 220
CONTENTS vii 6.2 Interaction of Genes in Pathways 223 Biosynthetic pathways in Neurospora 224 Gene interaction in other types of pathways 226 6.3 Inferring Gene Interactions 227 Sorting mutants using the complementation test 227 Analyzing double mutants of random mutations 231 6.4 Penetrance and Expressivity 239 PART I! FROM DNATO PHENOTYPE Q Structure and Replication 259 7.1 DNA: The Genetic Material 260 Discovery of transformation 261 Hershey-Chase experiment 263 7.2 DNA Structure 264 DNA structure before Watson and Crick 264 The double helix 267 7.3 Semiconservative Replication 270 Meselson-Stahl experiment 271 The replication fork 272 DNA polymerases 273 7.4 Overview of DNA Replication 274 7.5 The Replisome: A Remarkable Replication Machine 277 Unwinding the double helix 279 Assembling the replisome: replication initiation 280 7.6 Replication in Eukaryotic Organisms 280 Eukaryotic origins of replication 280 DNA replication and the yeast cell cycle 281 Replication origins in higher eukaryotes 282 7.7 Telomeres and Telomerase: Replication Termination 283 Q RNA: Transcription and Processing 29? 8.1 RNA 293 Early experiments suggest an RNA intermediate 293 Properties of RNA 294 Classes of RNA 294 8.2 Transcription 296 Overview: DNA as transcription template 296 Stages of transcription 298 8.3 Transcription in Eukaryotes 301 Transcription initiation in eukaryotes 303 Elongation, termination, and pre-mRNA processing in eukaryotes 304 8.4 Intron Removal and Exon Splicing 307 Small nuclear RNAs (snRNAs): the mechanism of exon splicing 307 Self-splicing introns and the RNA world 308 8.5 Small Functional RNAs That Regulate and Protect the Eukaryotic Genome 310 miRNAs are important regulators of gene expression 310 siRNAs ensure genome stability 311 Similar mechanisms generate siRNA and miRNA 314 Q Proteins and Their Synthesis 319 9.1 Protein Structure 322 9.2 The Genetic Code 324 Overlapping versus nonoverlapping codes
325 Number of letters in the codon 325 Use of suppressors to demonstrate a triplet code 325 Degeneracy of the genetic code 327 Cracking the code 328 Stop codons 329 9.3 tRNA: The Adapter 329 Codon translation by tRNA 331 Degeneracy revisited 331 9.4 Ribosomes 332 Ribosome features 333 Translation initiation, elongation, and termination 335 Nonsense suppressor mutations 338 9.5 The Proteome 339 Alternative splicing generates protein isoforms 339 Posttranslational events 340 Gene Isolation and Manipulation 351 10.1 Overview: Isolating and Amplifying Specific DNA Fragments 353 10.2 Generating Recombinant DNA Molecules 354 Genomic DNA can be cut up before cloning 355 The polymerase chain reaction amplifies selected regions of DNA in vitro 356 DNA copies of mRNA can be synthesized 358 Attaching donor and vector DNA 358 Amplification of donor DNA inside a bacterial cell 362 Making genomic and cDNA libraries 366 10.3 Using Molecular Probes to Find and Analyze a Specific Clone of Interest 367 Finding specific clones by using probes 367 Finding specific clones by functional complementation 369 Southern- and Northern-blot analysis of DNA 371 10.4 Determining the Base Sequence of a DNA Segment 374
CONTENTS viii 10.5 Aligning Genetic and Physical Maps to Isolate Specific Genes 377 Using positional cloning to identify a human-disease gene 378 Using fine mapping to identify genes 379 10.6 Genetic Engineering 382 Genetic engineering in Saccharomyces cerevisiae 383 Genetic engineering in plants 383 Genetic engineering in animals 386 |Q Regulation of Gene Expression in Bacteria and Their Viruses 397 11.1 Gene Regulation 399 The basics of prokaryotic transcriptional regulation: genetic switches 400 A first look at the lac regulatory circuit 401 11.2 Discovery of the lac System: Negative Control 404 Genes controlled together 405 Genetic evidence for the operator and repressor 405 Genetic evidence for allostery 407 Genetic analysis of the lac promoter 408 Molecular characterization of the Lac repressor and the lac operator 408 Genetic analysis of the lac promoter 408 Molecular characterization of the Lac repressor and the lac operator 408 11.3 Catabolite Repression of the lac Operon: Positive Control 409 The basics of lac catabolite repression: choosing the best sugar to metabolize 410 The structures of target DNA sites 410 A summary of the lac operon 411 11.4 Dual Positive and Negative Control: The Arabinose Operon 413 11.5 Metabolic Pathways and Additional Levels of Regulation: Attenuation 414 11.6 Bacteriophage Life Cycles: More Regulators, Complex Operons 417 Molecular anatomy of the genetic switch 421 Sequence-specific binding of regulatory proteins to DNA 422 11.7 Alternative Sigma Factors Regulate Large Sets of Genes 423 E Regulation of Gene Expression in Eukaryotes 431 12.1 Transcriptional Regulation in Eukaryotes: An Overview 432 12.2 Lessons from Yeast: The GAL System 436 Gal4 regulates multiple genes through upstream activation sequences 436 The Gal4 protein has separable DNA-binding and activation domains 438 Gal4 activity is physiologically regulated 439 Gal4 functions in most eukaryotes 439 Activators
recruit the transcriptional machinery 440 The control of yeast mating type: combinatorial interactions 440 12.3 Dynamic Chromatin 443 Chromatin-remodeling proteins and gene activation 444 Modification of histones 445 Histone méthylation can activate or repress gene expression 448 The inheritance of histone modifications and chromatin structure 448 Histone variants 449 DNA méthylation: another heritable mark that influences chromatin structure 449 12.4 Activation of Genes in a Chromatin Environment 450 The p-interferon enhanceosome 451 Enhancer-biocking insulators 452 12.5 Long-Term Inactivation of Genes in a Chromatin Environment 454 Mating-type switching and gene silencing 454 Heterochromatin and euchromatin compared 455 Position-effect variegation in Drosophila reveals genomic neighborhoods 456 Genetic analysis of PEV reveals proteins necessary for heterochromatin formation 457 12.6 Gender-Specific Silencing of Genes and Whole Chromosomes 460 Genomic imprinting explains some unusual patterns of inheritance 460 But what about Dolly and other cloned mammals? 461 Silencing an entire chromosome: X-chromosome inactivation s 462 12.7 Post-Transcriptional Gene Repression by miRNAs 463 El The Genetic Control of Development 469 13.1 The Genetic Approach to Development 471 13.2 The Genetic Toolkit for Drosophila Development 474 Classification of genes by developmental function 474 Homeotic genes and segmental identity 474 Organization and expression of Hox genes 476 The homeobox 478 Clusters of Hox genes control development in most animals 479
CONTENTS IX 13.3 13.4 13.5 13.6 13.7 14.3 14.4 14.5 14.6 Defining the Entire Toolkit 482 The anteroposterior and dorsoventral axes 483 Expression of toolkit genes 484 Spatial Regulation of Gene Expression in Development 487 Maternal gradients and gene activation 488 Drawing stripes: integration of gap-protein inputs 489 Making segments different: integration of Hox inputs 491 Post-transcriptional Regulation of Gene Expression in Development 494 RNA splicing and sex determination in Drosophila 494 Regulation of mRNA translation and cell lineage in C. elegans 496 Translational control in the early embryo 496 miRNA control of developmental timing in C. elegans and other species 499 From Flies to Fingers, Feathers, and Floor Plates: The Many Roles of Individual Toolkit Genes 500 Development and Disease 501 Polydactyly 501 Holoprosencephaly 502 Cancer as a developmental disease 502 14.7 Functional Genomics and Reverse Genetics 536 “’Omics” 536 Reverse genetics 539 PART III MUTATION, VARIATION, AND EVOLUTION E3 The Dynamic Genome: Transposable Elements 547 15.1 Discovery of Transposable Elements in Maize 549 McClintock’s experiments: the Ds element 549 Autonomous and nonautonomous elements 550 Transposable elements: only in maize? 552 15.2 Transposable Elements in Prokaryotes 553 Bacterial insertion sequences 553 Prokaryotic transposons 554 Mechanism of transposition 556 15.3 Transposable Elements in Eukaryotes 558 Class 1 : retrotransposons 558 Class 2: DNA transposons 562 Utility of DNA transposons for gene discovery 564 Genomes and Genomics 507 The Genomics Revolution 510 Obtaining the Sequence of a Genome 511 Turning sequence reads into an assembled sequence 511 Whole-genome sequencing 513 Traditional WGS 513 Next-generation whole-genome shotgun sequencing 514 Whole-genome-sequence assembly 517 Bioinformatics: Meaning from Genomic Sequence 519 The nature of the information content of DNA 519 Deducing the
protein-encoding genes from genomic sequence 520 The Structure of the Human Genome 524 Noncoding functional elements in the genome 525 The Comparative Genomics of Humans with Other Species 527 Phylogenetic inference 527 Of mice and humans 530 Comparative genomics of chimpanzees and humans 532 Comparative Genomics and Human Medicine 532 The exome and personalized genomics 533 Comparative genomics of nonpathogenic and pathogenic £ coli 534 15.4 The Dynamic Genome: More Transposable Elements Than Ever Imagined 566 Large genomes are largely transposable elements 567 Transposable elements in the human genome 568 The grasses: LTR-retrotransposons thrive in large genomes 569 Safe havens 569 15.5 Regulation of Transposable Element Movement by the Host 571 Genome surveillance in animals and bacteria 573 ES Mutation, Repair, and Recombination 581 16.1 The Phenotypic Consequences of DNA Mutations 583 Types of point mutation 583 The molecular consequences of point mutations in a coding region 584 The molecular consequences of point mutations in a noncoding region 586 16.2 The Molecular Basis of Spontaneous Mutations 586 Luria and Delbrück fluctuation test 586 Mechanisms of spontaneous mutations 588 Spontaneous mutations in humans: trinucleotide- repeat diseases 591
X CONTENTS 16.3 The Molecular Basis of Induced Mutations 593 Mechanisms of mutagenesis 593 The Ames test: evaluating mutagens in our environment 595 16.4 Biological Repair Mechanisms 596 Direct reversal of damaged DNA 597 Base-excision repair 598 Nucleotide-excision repair 599 Postreplication repair: mismatch repair 602 Error-prone repair: translesion DNA synthesis 604 Repair of double-strand breaks 606 The involvement of DSB repair in meiotic recombination 608 16.5 Cancer: An Important Phenotypic Consequence of Mutation 609 How cancer cells differ from normal cells 609 Mutations in cancer cells 609 m Large-Scale Chromosomal Changes 617 17.1 Changes in Chromosome Number 618 Aberrant euploidy 619 Aneuploidy 627 The concept of gene balance 632 17.2 Changes in Chromosome Structure 634 Deletions 637 Duplications 640 Inversions 642 Reciprocal translocations 645 Robertsonian translocations 647 Applications of inversions and translocations 648 Rearrangements and cancer 649 Identifying chromosome mutations by genomics 650 17.3 Overall Incidence of Human Chromosome Mutations 651 or Population Genetics 665 18.1 Detecting Genetic Variation 666 Single nucleotide polymorphisms (SNPs) 667 Microsatellites 668 Haplotypes 669 Other sources and forms of variation 670 The HapMap Project 671 18.2 The Gene-Pool Concept and the Hardy- Weinberg Law 672 18.3 Mating Systems 677 Assortative mating 677 Isolation by distance 678 Inbreeding 679 The inbreeding coefficient 680 Population size and inbreeding 682 18.4 Genetic Variation and Its Measurement 684 18.5 The Modulation of Genetic Variation 687 New alleles enter the population: mutation and migration 687 Recombination and linkage disequilibrium 689 Genetic drift and population size 691 Selection 696 Forms of selection 698 Balance between mutation and drift 702 Balance between mutation and selection 703 18.6 Biological and Social Applications 704 Conservation genetics 704 Calculating
disease risks 705 DNA forensics 706 Googling your DNA mates 707 Qj] The Inheritance of Complex Traits 715 19.1 Measuring Quantitative Variation 717 Types of traits and Inheritance 717 The mean 718 The variance 719 The normal distribution 721 19.2 A Simple Genetic Model for Quantitative Traits 722 Genetic and environmental deviations 722 Genetic and environmental variances 724 Correlation between variables 725 19.3 Broad-Sense Heritability: Nature Versus Nurture 727 Measuring heritability in humans using twin studies 728 19.4 Narrow-Sense Heritability: Predicting Phenotypes 731 Gene action and the transmission of genetic variation - 732 The additive and dominance effects 733 A model with additivity and dominance 734 Narrow-sense heritability 736 Predicting offspring phenotypes 739 Selection on complex traits 740 19.5 Mapping QTL in Populations with Known Pedigrees 742 The basic method 743 From QTL to gene 747 19.6 Association Mapping in Random-Mating Populations 742 The basic method 751 GWA, genes, disease, and heritability 752
CONTENTS xi m Evolution of Genes and Traits 761 20.1 Evolution by Natural Selection 764 20.2 Natural Selection in Action: An Exemplary Case 766 The selective advantage of Hb s 768 The molecular origins of Hb s 770 20.3 Molecular Evolution: The Neutral Theory 771 The development of the neutral theory 771 The rate of neutral substitutions 772 The signature of purifying selection on DNA 772 20.4 Cumulative Selection and Multistep Paths to Functional Change 774 Multistep pathways in evolution 774 The signature of positive selection on DNA sequences 778 20.5 Morphological Evolution 779 Adaptive changes in a pigment-regulating protein 779 Gene inactivation 781 Regulatory-sequence evolution 782 Loss of characters through regulatory-sequence evolution 783 Regulatory evolution in humans 785 20.6 The Origin of New Genes and Protein Functions 786 Expanding gene number 787 The fate of duplicated genes 788 A Brief Guide to Model Organisms 793 Appendix A: Genetic Nomenclature 809 Appendix B: Blolnformatics Resources for Genetics and Genomics 810 Glossary 813 Answers to Selected Problems 833 Index 845
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| genre_facet | Einführung Lehrbuch |
| id | DE-604.BV042371746 |
| illustrated | Illustrated |
| indexdate | 2024-07-10T01:19:47Z |
| institution | BVB |
| isbn | 9781319153922 9781464109485 1464109486 |
| language | English |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-027807996 |
| oclc_num | 909875682 |
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| physical | XXIII, 868 S. zahlr. Ill., graph. Darst. |
| publishDate | 2015 |
| publishDateSearch | 2015 |
| publishDateSort | 2015 |
| publisher | Freeman |
| record_format | marc |
| spelling | Introduction to genetic analysis Anthony J. F. Griffiths ... 11. ed. New York, NY Freeman 2015 XXIII, 868 S. zahlr. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Genetik (DE-588)4071711-2 gnd rswk-swf CD-ROM (DE-588)4139307-7 gnd rswk-swf Methode (DE-588)4038971-6 gnd rswk-swf 1\p (DE-588)4151278-9 Einführung gnd-content 2\p (DE-588)4123623-3 Lehrbuch gnd-content Genetik (DE-588)4071711-2 s Methode (DE-588)4038971-6 s 3\p DE-604 CD-ROM (DE-588)4139307-7 s 4\p DE-604 Griffiths, Anthony J. F. Sonstige (DE-588)13731695X oth HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=027807996&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis 1\p cgwrk 20201028 DE-101 https://d-nb.info/provenance/plan#cgwrk 2\p cgwrk 20201028 DE-101 https://d-nb.info/provenance/plan#cgwrk 3\p cgwrk 20201028 DE-101 https://d-nb.info/provenance/plan#cgwrk 4\p cgwrk 20201028 DE-101 https://d-nb.info/provenance/plan#cgwrk |
| spellingShingle | Introduction to genetic analysis Genetik (DE-588)4071711-2 gnd CD-ROM (DE-588)4139307-7 gnd Methode (DE-588)4038971-6 gnd |
| subject_GND | (DE-588)4071711-2 (DE-588)4139307-7 (DE-588)4038971-6 (DE-588)4151278-9 (DE-588)4123623-3 |
| title | Introduction to genetic analysis |
| title_auth | Introduction to genetic analysis |
| title_exact_search | Introduction to genetic analysis |
| title_full | Introduction to genetic analysis Anthony J. F. Griffiths ... |
| title_fullStr | Introduction to genetic analysis Anthony J. F. Griffiths ... |
| title_full_unstemmed | Introduction to genetic analysis Anthony J. F. Griffiths ... |
| title_short | Introduction to genetic analysis |
| title_sort | introduction to genetic analysis |
| topic | Genetik (DE-588)4071711-2 gnd CD-ROM (DE-588)4139307-7 gnd Methode (DE-588)4038971-6 gnd |
| topic_facet | Genetik CD-ROM Methode Einführung Lehrbuch |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=027807996&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
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