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Description: Thoroughly revised and updated with the latest data from this ever-changing field, the eighth edition of Genetics: Analysis of Genes and Genomes provides a clear, balanced, and comprehensive introduction to genetics and genomics at the college level. Expanding upon the key elements that have made this text a success, Dr. Hartl has included updates throughout, as well as a new chapter dedicated to human genetic evolution. He continues to treat transmission genetics, molecular genetics, and evolutionary genetics as fully integrated subjects and provides students with an unprecedented understanding of the basic process of gene transmission, mutation, expression, and regulation. The beginning of each chapter includes a new section highlighting scientific competencies, while end-of-chapter Guide to Problem-Solving sections demonstrate the concepts needed to solve problems efficiently and understand the reasoning behind the correct answer.
New and Key Features of the Eighth Edition:
• A new Chapter 19, Human Evolutionary Genetics.
• Learning Objectives & Scientific Competencies added to the beginning of each chapter.
• New problem sets in the accompanying ancillary material.
• Updated throughout with the latest data in this fast-paced field including new sections on Telomere Length Limits and Number of Cell Doublings; CNV with Reciprocal Risks of Autism and Schizophrenia; Translation Proofreading and Premature Termination; Stochastic Noise in Gene Expression; Stochastic Noise in lac Expression; and Long Noncoding RNA (IncRNA).
Contents: Genes, Genomes and Genetic Analysis • Learning Objectives & Science Competencies • DNA: The Genetic Material • Experimental Proof of the Genetic Function of DNA • Genetic Role of DNA in Bacteriophage • DNA Structure and Replication • An Overview of DNA Replication • Genes and Proteins • Inborn Errors of Metabolism as a Cause of Hereditary Disease • Genetic Analysis • Mutant Genes and Defective Proteins • Complementation Test for Mutations in the Same Gene • Analysis of Complementation Data • Other Applications of Genetic Analysis • Gene Expression: The Central Dogma • Transcription • Translation • The Genetic Code • Mutation • Genes and Environment • The Molecular Unity of Life • Prokaryotes and Eukaryotes • The Origin of Life on Earth • Genomes and Proteomes • Chapter Summary • Review the Basics • Guide to Problem Solving • Analysis and Applications • Challenge Problems • Connection: The Black Urine Disease • Connection: One Gene, One Enzyme
DNA Structure and Genetic Variation • Learning Objectives & Science Competencies • Genetic Differences Among Individuals • DNA Markers as Landmarks in Chromosomes • The Molecular Structure of DNA • Polynucleotide Chains • Base Pairing and Base Stacking • Antiparallel Strands • DNA Structure as Related to Function • The Separation and Identification of Genomic DNA Fragments • Restriction Enzymes and Site- Specific DNA Cleavage • Gel Electrophoresis • Nucleic Acid Hybridization • The Southern Blot • Selective Replication of Genomic DNA Fragments • Constraints on DNA Replication: Primers and 5’-to-3’ Strand Elongation • The Polymerase Chain Reaction • The Terminology of Genetic Analysis • Types of DNA Markers Present in Genomic DNA • Single-Nucleotide Polymorphisms (SNPs) • Restriction Fragment Length Polymorphisms (RFLPs) • Tandem Repeat Polymorphisms • Copy-Number Variation (CNV) • Applications of DNA Markers • Genetic Markers, Genetic Mapping, and “Disease Genes” • Other Uses for DNA Markers • Chapter Summary • Review the Basics • Guide to Problem Solving • Analysis and Applications • Challenge Problems • Connection: The Double Helix • Connection: Origin of the Human Genetic Linkage Map
Transmission Genetics: The Principle of Segregation • Learning Objectives & Science Competencies • Morphological and Molecular Phenotypes • Segregation of a Single Gene • Phenotypic Ratios in the F2 Generation • The Principle of Segregation • Verification of Segregation • The Testcross and the Backcross • Segregation of Two or More Genes • The Principle of Independent Assortment • The Testcross with Unlinked Genes • Three or More Genes • Probability in Genetic Analysis • Elementary Outcomes and Events • Probability of the Union of Events • Probability of the Intersection of Events • Human Pedigree Analysis • Characteristics of Dominant and Recessive Inheritance • Most Human Genetic Variation is Not “Bad” • Molecular Markers in Human Pecligrees • Conditional Probability • Bayes Theorem • Incomplete Dominance and Epistasis • Multiple Alleles • Human ABO Blood Groups • Epistasis • Chapter Summary • Review the Basics • Guide to Problem Solving • Analysis and Applications • Challenge Problems • Connection: What Did Gregor Mendel Think He Discovered? • Connection: This Land Is Your Land
Chromosomes and Sex-Chromosome Inheritance • Learning Objectives & Science Competencies • The Stability of Chromosome Complements • Mitosis • Meiosis • The First Meiotic Division: Reduction • The Second Meiotic Division: Equation • Sex-Chromosome Inheritance • Chromosomal Determination of Sex • X-Linked Inheritance • Pedigree Characteristics of Human X-Linked Inheritance • Heterogametic Females • Nondisjunction as Proof of the Chromosome Theory of Heredity • Sex Determination in Drosophila • Probability in the Prediction of Progeny Distributions • Using the Binomial Distribution in Genetics • Meaning of the Binomial Coefficient • Testing Goodness of Fit to a Genetic Hypothesis • The Chi-Square Method • Are Mendel’s Data Too Good to Be True? • Chapter Summary • Review the Basics • Guide to Problem Solving • Analysis and Applications • Challenge Problems • Connection: Grasshopper, Grasshopper • Connection: The White-Eyed Male • Connection: Seeds of Doubt
Genetic Linkage and Chromosome Mapping • Learning Objectives & Science Competencies • Linkage and Recombination of Genes in a Chromosome • Coupling versus Repulsion of Syntenic Alleles • The Chi-Square Test for Linkage • Each Pair of Linked Genes Has a Characteristic Frequency of Recombination • Recombination in Females Versus Males • Genetic Mapping • Map Distance and Frequency of Recombination • Crossing Over • Recombination Between Genes Results from a Physical Exchange Between Chromosomes • Crossing Over Takes Place at the Four-Strand Stage of Meiosis • Multiple Crossovers • Genetic Mapping in a Three-Point Testcross • Chromosome Interference in Double Crossovers • Genetic Mapping Functions • Genetic Map Distance and Physical Distance • Genetic Mapping in Human Pedigrees • Mapping by Tetrad Analysis • Analysis of Unordered Tetrads • Genetic Mapping with Unordered Tetrads • Analysis of Ordered Tetrads • Special Features of Recombination • Recombination Within Genes • Mitotic Recombination • Chapter Summary • Review the Basics • Guide to Problem Solving • Analysis and Applications • Challenge Problems • Connection: Genes All in a Row • Connection: Human Gene Map
Molecular Biology of DNA Replication and Recombination • Learning Objectives & Science Competencies • Problems of Initiation, Elongation, and Incorporation Error • Semiconservative Replication of Double-Stranded DNA • The Meselson-Stahl Experiment • Semiconservative Replication of DNA in Chromosomes • Theta Replication of Circular DNA Molecules • Rolling-Circle Replication • Multiple Origins and Bidirectional Replication in Eukaryotes • Unwinding, Stabilization, and Stress Relief • Initiation by a Primosome Complex • Chain Elongation and Proofreading • Discontinuous Replication of the Lagging Strand • Fragments in the Replication Fork • The Joining of Precursor Fragments • Terminator Sequencing of DNA • Sanger Sequencing • Massively Parallel Sequencing • Molecular Mechanisms of Recombination • Gene Conversion and Mismatch Repair • Double-Strand Break and Repair Model • Hotspots of Recombination • Chapter Summary • Review the Basics • Guide to Problem Solving • Analysis and Applications • Challenge Problems • Connection: Replication by Halves • Connection: Happy Holliday
Molecular Organization of Chromosomes • Learning Objectives & Science Competencies • Genome Size and Evolutionary Complexity: The C-Value Paradox • The Supercoiling of DNA • Topoisomerase Enzymes • The Structure of Bacterial Chromosomes • The Structure of Eukaryotic Chromosomes • The Nucleosome: The Structural Unit of Chromatin • The Nucleosome Core Particle • Chromosome Territories in the Nucleus • Chromosome Condensation • Polytene Chromosomes • Repetitive Nucleotide Sequences in Eukaryotic Genomes • Kinetics of DNA Renaturation • Analysis of Genome Size and Repetitive Sequences by Renaturation Kinetics • Unique and Repetitive Sequences in Eukaryotic Genomes • Unique Sequences • Highly Repetitive Sequences • Middle- Repetitive Sequences • Molecular Structure of the Centromere • Molecular Structure of the Telomere • Telomere Length Limits the Number of Cell Doublings • Chapter Summary • Review the Basics • Guide to Problem Solving • Analysis and Applications • Challenge Problems • Connection: Post-Genomics Genetics • Connection: Telomeres: The Beginning of the End
Human Karyotypes and Chromosome Behavior • Learning Objectives & Science Competencies • The Human Karyotype • Standard Karyotypes • The Centromere and Chromosome Stability • Dosage Compensation of X-Linked Genes • The Calico Cat • Pseudoautosomal Inheritance • Active Genes in the “Inactive” X Chromosome • Gene Content and Evolution of the Y Chromosome • Chromosome Abnormalities in Human Pregnancies • Down Syndrome and Other Viable Trisomies • Trisomic Segregation • Sex-Chromosome Abnormalities • Environmental Effects on Nondisjunction • Chromosomal Deletions and Duplications • Deletions • Deletion Mapping • Duplications • Unequal Crossing Over in Red- Green Color Blindness • CNV with Reciprocal Risks of Autism and Schizophrenia • Genetics of Chromosomal Inversions • Para centric Inversion (Not Including the Centromere) • Pericentric Inversion (Including the Centromere) • Chromosomal Translocations • Reciprocal Translocations • Genetic Mapping of a Translocation Breakpoint • Robertsonian Translocations • Translocations and Trisomy • Translocation Complexes in Oenothera • Genomic Position Effects on Gene Expression • Polyploidy in Plant Evolution • Sexual Versus Asexual Polyploidization • Autopolyploids and Allopolyploids • Monoploid Organisms • Genome Evolution in the Grass Family (Gramineae) • Chapter Summary • Review the Basics • Guide to Problem Solving • Analysis and Applications • Challenge Problems • Connection: Lyonization of an X Chromosome • Connection: The First Human Chromosomal Disorder Identified
Genetics of Bacteria and Their Viruses • Learning Objectives & Science Competencies • Mobile DNA • Plasmids • The F Plasmid: A Conjugative Plasmid • Insertion Sequences and Transposons • Mobilization of Nonconjugative Plasmids • Integrons and Antibiotic-Resistance Cassettes • Pathogenicity Islands • Multiple-Antibiotic-Resistant Bacteria • Bacterial Genetics • Mutant Phenotypes • Mechanisms of Genetic Exchange • DNA-Mediated Transformation • Conjugation • Cointegrate Formation and Hfr Cells • Time-of-Entry Mapping • F’ Plasmids • Transduction • The Phage Lytic Cycle • Generalized Transduction • Bacteriophage Genetics • Plaque Formation and Phage Mutants • Genetic Recombination in the Lytic Cycle • Fine Structure of the rII Gene in Bacteriophage T4 • Lysogeny and Specialized Transduction • Site-Specific Recombination and Lysogeny • Chapter Summary • Review the Basics • Guide to Problem Solving • Analysis and Applications • Challenge Problems • Connection: The Sex Life of Bacteria • Connection: Origin of Phage Genetics • Connection: Artoo
Molecular Biology of Gene Expression • Learning Objectives & Science Competencies • Amino Acids, Polypeptides, and Proteins • Colinearity Between Coding Sequences and Polypeptides • Transcription • Overview of RNA Synthesis • Types of RNA Polymerase • Promoter Recognition • Mechanism of Transcription • Genetic Evidence for Promoters and Terminators • Messenger RNA • RNA Processing in Eukaryotes • 5’ Capping and 3’ Polyadenylation • Splicing of Intervening Sequences • Characteristics of Human Transcripts • Coupling of Transcription and RNA Processing • Mechanism of RNA Splicing • Effects of Intron Mutations • Exon Shuffle in the Origin of New Genes • Translation • Nonsense-Mediated Decay • Initiation by mRNA Scanning • Elongation • Release • Translational Proofreading and Premature Termination • Protein Folding and Chaperones • Complex Translation Units • Polysomes • Polycistronic mRNA • The Standard Genetic Code • Genetic Evidence for a Triplet Code • How the Code Was Cracked • Features of the Standard Code • Transfer RNA and Aminoacyl-tRNA Synthetase Enzymes • Redundancy and Wobble • Nonsense Suppression • Chapter Summary • Review the Basics • Guide to Problem Solving • Analysis and Applications • Challenge Problems • Connection: Messenger “Light” • Connection: Poly-U
Molecular Mechanisms of Gene Regulation • Learning Objectives & Science Competencies • Transcriptional Regulation in Prokaryotes • Inducible and Repressible Systems of Negative Regulation • Positive Regulation • Stochastic Noise in Gene Expression • The Operon System of Gene Regulation • Lac Mutants • Inducible and Constitutive Synthesis and Repression • The Repressor, Operator, and Promoter • The Operon System of Transcriptional Regulation • Stochastic Noise in Lac Expression • Positive Regulation of the Lactose Operon • Regulation of the Tryptophan Operon • Regulation Through Transcription Termination • Attenuation • Riboswitches • Regulation in Bacteriophage Lambda • Transcriptional Regulation in Eukaryotes • Galactose Metabolism in Yeast • Transcriptional Activator Proteins • Transcriptional Enhancers and Transcriptional Silencers • Deletion Scanning • The Eukaryotic Transcription Complex • Chromatin-Remodeling Complexes • Alternative Promoters • Epigenetic Mechanisms of Transcriptional Regulation • Cytosine Methylation • Methylation and Transcriptional Inactivation • Genomic Imprinting in the Female and Male Germ Lines • Regulation Through RNA Processing and Decay • Alternative Splicing • Messenger RNA Stability • RNA Interference • Long Noncoding RNA (lneRNA) • Translational Control • Small Regulatory RNAs Controlling Translation • Programmed DNA Rearrangements • Gene Amplification • Antibody and T-Cell Receptor Variability • Mating-Type Interconversion • Transcriptional Control of Mating Type • Chapter Summary • Review the Basics • Guide to Problem Solving • Analysis and Applications • Challenge Problems • Connection: Operator? Operator? • Connection: Double Trouble
Genomics, Proteomics, and Transgenics • Learning Objectives & Science Competencies • Site-Specific DNA Cleavage and Cloning Vectors • Production of DNA Fragments with Defined Ends • Recombinant DNA Molecules • Plasmid, Lambda, and Cosmid Vectors • Cloning Strategies • Joining DNA Fragments • Insertion of a Particular DNA Molecule into a Vector • The Use of Reverse Transcriptase: cDNA and RT-PCR • Detection of Recombinant Molecules • Gene Inactivation in the Vector Molecule • Screening for Particular Recombinants • Genomics and Proteomics • Genomic Sequencing • Genome Annotation • Comparative Genomics • Transcriptional Profiling with Microarrays or RNA-seq • Chromatin Imrnunoprecipitation • Two-Hybrid Analysis of Protein-Protein Interactions • Transgenic Organisms • Germ-Line Transformation in Animals • Genetic Engineering in Plants • Transformation Rescue • Site-Directed Mutagenesis and Knockout Mutations • Some Applications of Genetic Engineering • Giant Salmon with Engineered Growth Hormone • Nutritionally Engineered Rice • Production of Useful Proteins • Genetic Engineering with Animal Viruses • Chapter Summary • Review the Basics • Guide to Problem Solving • Analysis and Applications • Challenge Problems • Connection: Hello, Dolly! • Connection: A Pinch of This and a Smidgen of That
Genetic Control of Development • Learning Objectives & Science Competencies • Genetic Determinants of Development • Early Embryonic Development in Animals • Autonomous Development and Intercellular Signaling • Composition and Organization of Oocytes • Early Development and Activation of the Zygotic Genome • Genetic Analysis of Development in the Nematode • Analysis of Cell Lineages • Mutations Affecting Cell Lineages • Programmed Cell Death • Loss-of-Function and Gain-of-Function Alleles • Epistasis in the Analysis of Developmental Switches • Genetic Control of Development in Drosophila • Maternal-Effect Genes and Zygotic Genes • Genetic Basis of Pattern Formation in Early Development • Coordinate Genes • Gap Genes • Pair-Rule Genes • Segment-Polarity Genes • Interactions in the Regulatory Hierarchy • Metamorphosis of the Adult Fly • Homeotic Genes • Master Control Genes in Evolution • Genetic Control of Development in Higher Plants • Flower Development in Arabidopsis • Combinatorial Determination of the Floral Organs • Chapter Summary • Review the Basics • Guide to Problem Solving • Analysis and Applications • Challenge Problems • Connection: Distinguished Lineages • Connection: Embryogenesis
Molecular Mechanisms of Mutation and DNA Repair • Learning Objectives & Science Competencies • Types of Mutations • Germ-Line and Somatic Mutations • Conditional Mutations • Classification by Function • The Molecular Basis of Mutation • Nucleotide Substitutions • Missense Mutations: The Example of Sickle-Cell Anemia • Insertions, Deletions, and Frameshift Mutations • Dynamic Mutation of Trinucleotide Repeats • Cytosine Methylation and Gene Inactivation • Transposable Elements • Molecular Mechanisms of Transposition • Transposable Elements as Agents of Mutation • Transposable Elements in the Human Genome • Spontaneous Mutation • The Nonadaptive Nature of Mutation • Estimation of Mutation Rates • Hotspots of Mutation • Mutagens • Depurination • Oxidation • Base-Analog Mutagens • Chemical Agents That Modify DNA • Intercalating Agents • Ultraviolet Irradiation • Ionizing Radiation • Genetic Effects of the Chernobyl Nuclear Accident • Mechanisms of DNA Repair • Mismatch Repair • Base Excision Repair • AP Repair • Nucleotide Excision Repair • Photoreactivation • DNA Damage Bypass • Double-Strand Gap Repair • The SOS Repair System • Reverse Mutations and Suppressor Mutations • Intragenic Suppression • Intergenic Suppression • The Ames Test for Mutagen/ Carcinogen Detection • Chapter Summary • Review the Basics • Guide to Problem Solving • Analysis and Applications • Challenge Problems • Connection: Her Feeling for the Organism • Connection: X-Ray Daze • Connection: Replication Slippage in Unstable Repeats
Molecular Genetics of the Cell Cycle and Cancer • Learning Objectives & Science Competencies • The Cell Cycle • Key Events in the Cell Cycle • Transcriptional Program of the Cell Cycle • Genetic Analysis of the Cell Cycle • Mutations Affecting Progression Through the Cell Cycle • Progression Through the Cell Cycle • Cyclins and Cyclin-Dependent Protein Kinases • Targets of the Cyclin-CDK Complexes • Triggers for the G1/S and G2/M Transitions • Protein Degradation Helps Regulate the Cell Cycle • Checkpoints in the Cell Cycle • The DNA Damage Checkpoint • The Centrosome Duplication Checkpoint • The Spindle Assembly Checkpoint • Consequences of Checkpoint Failure • Cancer Cells • Oncogenes and Proto-Oncogenes • Tumor-Suppressor Genes • Hereditary cancer Syndromes • Defects in Cell-Cycle Regulation and Checkpoints • Defects in DNA Repair • Genetics of the Acute Leukemias • Chapter Summary • Review the Basics • Guide to Problem Solving • Analysis and Applications • Challenge Problems • Connection: Cycle-Ops • Connection: Sick of Telomeres • Connection: Two Hits, Two Errors
Mitochondrial DNA and Extranuclear Inheritance • Learning Objectives & Science Competencies • Origin and Molecular Genetics of Organelles • Oganelle Genomes • RNA Editing • The Genetic Codes of Organelles • Patterns of Extranuclear Inheritance • Maternal Inheritance of Animal Mitochondria • Maternal Inheritance and Maternal Effects • Heteroplasmy • Mitochondrial Genetics Diseases • Tracing Population History Through Mitochondrial DNA • Cytoplasmic Male Sterility in Plants • Vegetative Segregation • Leaf Variegation in Four-O’Clock Plants • Respiration - Defective Mitochondrial Mutants in Yeast • Cytoplasmic Transmission of Symbionts • Bacterial Symbionts of Aphids • Killer Strains of Paramecium • Maternal Effect in Snail Shell Coiling • Chapter Summary • Review the Basics • Guide to Problem Solving • Analysis and Applications • Challenge Problems • Connection: A Coming Together • Connection: How the Aphids Got PVT TIM HALL
Molecular Evolution and Population Genetics • Learning Objectives & Science Competencies • Molecular Evolution • Gene Trees • Bootstrapping • Gene Trees and Species Trees • Molecular Clock of Evolutionary Change • Rates of DNA Evolution • Rates of Evolution in Protein-Coding Regions • Origins of New Genes: Orthologs and Paralogs • Population Genetics • Allele Frequencies and Genotype Frequencies • Random Mating and the Hardy-Weinberg Principle • Implications of the Hardy-Weinberg Principle • A Test for Random Mating • Frequency of Heterozygous Genotypes • Multiple Alleles • DNA Typing • X-Linked Genes • Inbreeding • The Inbreeding Coefficient • Allelic Identity by Descent • Calculation of the Inbreeding • Coefficient from Pedigrees • Effects of Inbreeding • Genetics and Evolution • Mutation and Migration • Irreversible Mutation • Reversible Mutation • Natural Selection • Selection in a Laboratory Experiment • Selection in Diploid Organisms • Components of Fitness • Selection-Mutation Balance • Heterozygote Superiority • Random Genetic Drift • Loss of Genetic Variation in Endangered Species • Chapter Summary • Review the Basics • Guide to Problem Solving • Analysis and Applications • Challenge Problems • Connection: A Yule Message from Dr. Hardy • Connection: Resistance in the Blood
The Genetic Basis of Complex Traits • Learning Objectives & Science Competencies • Complex Traits • Continuous, Categorical, and Threshold Traits • The Normal Distribution • Causes of Variation • Genotypic Variation • Environmental Variation • Genetics and Environment Combined • Genotype-by-Environment Interaction and Association • Genetic Analysis of Complex Traits • The Number of Genes Affecting Complex Traits • Broad-Sense Heritability • Twin Studies • Artificial Selection • Narrow-Sense Heritability • Phenotypic Change with Individual Selection: A Prediction Equation • Long-Term Artificial Selection • Inbreeding Depression and Heterosis • Correlation Between Relatives • Covariance and Correlation • The Geometrical Meaning of a Correlation • Estimation of Narrow-Sense Heritability • Heritabilities of Threshold Traits • Identification of Genes Affecting Complex Traits • Linkage Analysis in the Genetic Mapping of Quantitative Trait Loci • The Number and Nature of QTLs • Candidate Genes for Complex Traits • Chapter Summary • Review the Basics • Guide to Problem Solving • Analysis and Applications • Challenge Problems • Connection: A Maize’n Grass • Connection: Win, Place, or Show?
Human Evolutionary Genetics • Learning Objectives & Science Competencies • Where Humans Fit on the Tree of Life • Evidence That Humans Are Most Closely Related to Chimpanzees • Similarities in Genomic DNA • DNA Sequence Comparisons of Multiple Gene Regions • Differences Between Human and Chimpanzee Genomes • What Do the Genetic Differences Between Humans and Chimpanzees Mean? • Molecular Adaptations Unique to Humans • FOXP2: A Gene Related to Language • Gene-Expression Differences Between Humans and Chimpanzees • A Synopsis of Human Evolution • The Cast of Characters in Human Evolution • Models of Modern Human Origins • Genetic Evidence for Modern Human Origins • Tracing Human History Through Mitochondrial DNA • The Neandertal Genome • Another Archaic Hominin Genome • Measuring Human Diversity • Tracing Human History With Genetic Markers • The Apportionment of Within-Group and Between-Group Variation • Tracing Human History Through the Y Chromosome • Genetic Adaptations Unique to Humans • Lactase Presistence and the Cultural Practice of Herding • Amylase and Dietary Starch • Adaptation to Parasites and Disease • Evolutionary Adaptation Affecting Human Skin Color • Chapter Summary • Review the Basics • Guide to Problem Solving • Analysis and Applications • Challenge Problems • Connection: Skeletons in Our Closet • Connection: Starch Contrast • Answers to Even-Numbered Problems • Word Roots: Prefixes, Suffixes, and Combining Forms • Concise Dictionary of Genetics and Genomics • Index ISBN - 9789380853406
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Pages : 822
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