Efnisyfirlit

• Tilte Page
• Copyright Page
• About the Authors
• Content
• Preface
• 1 Introduction to Genetics
  • 1.1 Genetics Has an Interesting Early History
  • 1.2 Genetics Progressed from Mendel to DNA in Less Than a Century
  • 1.3 Discovery of the Double Helix Launched the Era of Molecular Genetics
  • 1.4 Development of Recombinant DNA Technology Began the Era of DNA Cloning
  • 1.5 The Impact of Biotechnology Is Continually Expanding
  • 1.6 Genomics, Proteomics, and Bioinformatics Are New and Expanding Fields
  • 1.7 Genetic Studies Rely on the Use of Model Organisms
  • 1.8 Genetics Has Had a Profound Impact on Society
  • Problems and Discussion Questions
• 2 Mitosis and Meiosis
  • 2.1 Cell Structure Is Closely Tied to Genetic Function
  • 2.2 Chromosomes Exist in Homologous Pairs in Diploid Organisms
  • 2.3 Mitosis Partitions Chromosomes into Dividing Cells
  • 2.4 Meiosis Creates Haploid Gametes and Spores and Enhances Genetic Variation in Species
  • 2.5 The Development of Gametes Varies in Spermatogenesis Compared to Oogenesis
  • 2.6 Meiosis Is Critical to Sexual Reproduction in All Diploid Organisms
  • 2.7 Electron Microscopy Has Revealed the Physical Structure of Mitotic and Meiotic Chromosomes
  • EXPLORING GENOMICS
    • PubMed: Exploring and Retrieving Biomedical Literature
  • CASE STUDY: Timing is everything
  • Insights and Solutions
  • Problems and Discussion Questions
• 3 Mendelian Genetics
  • 3.1 Mendel Used a Model Experimental Approach to Study Patterns of Inheritance
  • 3.2 The Monohybrid Cross Reveals How One Trait Is Transmitted from Generation to Generation
  • 3.3 Mendel’s Dihybrid Cross Generated a Unique F2 Ratio
  • 3.4 The Trihybrid Cross Demonstrates That Mendel’s Principles Apply to Inheritance of Multiple Tra
  • 3.5 Mendel’s Work Was Rediscovered in the EarlyTwentieth Century
    • EVOLVING CONCEPT OF THE GENE
  • 3.6 Independent Assortment Leads to Extensive Genetic Variation
  • 3.7 Laws of Probability Help to Explain Genetic Events
  • 3.8 Chi-Square Analysis Evaluates the Influence of Chance on Genetic Data
  • 3.9 Pedigrees Reveal Patterns of Inheritance of Human Traits
  • 3.10 Tay–Sachs Disease: The Molecular Basis of a Recessive Disorder in Humans
  • EXPLORING GENOMICS
    • Online Mendelian Inheritance in Man
  • CASE STUDY: To test or not to test
  • Insights and Solutions
  • Problems and Discussion Questions
• 4 Modification of Mendelian Ratios
  • 4.1 Alleles Alter Phenotypes in Different Ways
  • 4.2 Geneticists Use a Variety of Symbols for Alleles
  • 4.3 Neither Allele Is Dominant in Incomplete, or Partial, Dominance
  • 4.4 In Codominance, the Influence of Both Alleles in a Heterozygote Is Clearly Evident
  • 4.5 Multiple Alleles of a Gene May Exist in a Population
  • 4.6 Lethal Alleles Represent Essential Genes
    • EVOLVING CONCEPT OF THE GENE
  • 4.7 Combinations of Two Gene Pairs with Two Modes of Inheritance Modify the 9:3:3:1 Ratio
  • 4.8 Phenotypes Are Often Affected by More Than One Gene
  • 4.9 Complementation Analysis Can Determine if Two Mutations Causing a Similar Phenotype Are Alleles
  • 4.10 Expression of a Single Gene May Have Multiple Effects
  • 4.11 X-Linkage Describes Genes on the X Chromosome
  • 4.12 In Sex-Limited and Sex-Influenced Inheritance, an Individual’s Gender Influences the Phenotyp
  • 4.13 Genetic Background and the Environment Affect Phenotypic Expression
  • 4.14 Extranuclear Inheritance Modifies Mendelian Patterns
  • GENETICS, ETHICS, AND SOCIETY
    • Mitochondrial Replacement and Three-Parent Babies
  • CASE STUDY: Is it all in the genes?
  • Insights and Solutions
  • Problems and Discussion Questions
• 5 Sex Determination and Sex Chromosomes
  • 5.1 X and Y Chromosomes Were First Linked to Sex Determination Early in the Twentieth Century
  • 5.2 The Y Chromosome Determines Maleness in Humans
  • 5.3 The Ratio of Males to Females in Humans Is Not 1.0
  • 5.4 Dosage Compensation Prevents Excessive Expression of X-Linked Genes in Humans and Other Mammals
  • 5.5 The Ratio of X Chromosomes to Sets of Autosomes Can Determine Sex
  • 5.6 Temperature Variation Controls Sex Determination in Reptiles
  • GENETICS, ETHICS, AND SOCIETY
    • A Question of Gender: Sex Selection in Humans
  • CASE STUDY: Is the baby a boy or a girl?
  • Insights and Solutions
  • Problems and Discussion Questions
• 6 Chromosome Mutations: Variation in Number and Arrangement
  • 6.1 Variation in Chromosome Number: Terminology and Origin
  • 6.2 Monosomy and Trisomy Result in a Variety of Phenotypic Effects
  • 6.3 Polyploidy, in Which More Than Two Haploid Sets of Chromosomes Are Present, Is Prevalent in Plan
  • 6.4 Variation Occurs in the Composition and Arrangement of Chromosomes
  • 6.5 A Deletion Is a Missing Region of a Chromosome
  • 6.6 A Duplication Is a Repeated Segment of a Chromosome
  • 6.7 Inversions Rearrange the Linear Gene Sequence
  • 6.8 Translocations Alter the Location of Chromosomal Segments in the Genome
  • 6.9 Fragile Sites in Human Chromosomes Are Susceptible to Breakage
  • GENETICS, ETHICS, AND SOCIETY
    • Down Syndrome and Prenatal Testing—The New Eugenics?
  • CASE STUDY: Fish tales
  • Insights and Solutions
  • Problems and Discussion Questions
• 7 Linkage and Chromosome Mapping in Eukaryotes
  • 7.1 Genes Linked on the Same Chromosome Segregate Together
  • 7.2 Crossing Over Serves as the Basis of Determining the Distance between Genes during Mapping
  • 7.3 Determining the Gene Sequence during Mapping Requires the Analysis of Multiple Crossovers
  • 7.4 As the Distance between Two Genes Increases, Mapping Estimates Become More Inaccurate
    • EVOLVING CONCEPT OF THE GENE
  • 7.5 Chromosome Mapping Is Now Possible Using DNA Markers and Annotated Computer Databases
  • 7.6 Other Aspects of Genetic Exchange
  • EXPLORING GENOMICS
    • Human Chromosome Maps on the Internet
  • CASE STUDY: Links to autism
  • Insights and Solutions
  • Problems and Discussion Questions
• 8 Genetic Analysis and Mapping in Bacteria and Bacteriophages
  • 8.1 Bacteria Mutate Spontaneously and Are Easily Cultured
  • 8.2 Genetic Recombination Occurs in Bacteria
  • 8.3 The F Factor Is an Example of a Plasmid
  • 8.4 Transformation Is Another Process Leading to Genetic Recombination in Bacteria
  • 8.5 Bacteriophages Are Bacterial Viruses
  • 8.6 Transduction Is Virus-Mediated Bacterial DNA Transfer
  • GENETICS, ETHICS, AND SOCIETY
    • Multidrug-Resistant Bacteria: Fighting with Phage
  • CASE STUDY: To test or not to test
  • Insights and Solutions
  • Problems and Discussion Questions
• 9 DNA Structure and Analysis
  • 9.1 The Genetic Material Must Exhibit Four Characteristics
  • 9.2 Until 1944, Observations Favored Protein as the Genetic Material
  • 9.3 Evidence Favoring DNA as the Genetic Material Was First Obtained during the Study of Bacteria an
  • 9.4 Indirect and Direct Evidence Supports the Concept That DNA Is the Genetic Material in Eukaryotes
  • 9.5 RNA Serves as the Genetic Material in Some Viruses
  • 9.6 The Structure of DNA Holds the Key to Understanding Its Function
    • EVOLVING CONCEPT OF THE GENE
  • 9.7 Alternative Forms of DNA Exist
  • 9.8 The Structure of RNA Is Chemically Similar to DNA, but Single Stranded
  • 9.9 Many Analytical Techniques Have Been Useful during the Investigation of DNA and RNA
  • EXPLORING GENOMICS
    • Introduction to Bioinformatics: BLAST
  • CASE STUDY: Credit where credit is due
  • Insights and Solutions
  • Problems and Discussion Questions
• 10 DNA Replication
  • 10.1 DNA Is Reproduced by Semiconservative Replication
  • 10.2 DNA Synthesis in Bacteria Involves Five Polymerases, as Well as Other Enzymes
  • 10.3 Many Complex Issues Must Be Resolved during DNA Replication
  • 10.4 A Coherent Model Summarizes DNA Replication
  • 10.5 Replication Is Controlled by a Variety of Genes
  • 10.6 Eukaryotic DNA Replication Is Similar to Replication in Bacteria, but Is More Complex
  • 10.7 Telomeres Solve Stability and Replication Problems at Eukaryotic Chromosome Ends
  • GENETICS, ETHICS, AND SOCIETY
    • Telomeres: The Key to a Long Life?
  • CASE STUDY: At loose ends
  • Insights and Solutions
  • Problems and Discussion Questions
• 11 Chromosome Structure and DNA Sequence Organization
  • 11.1 Viral and Bacterial Chromosomes Are Relatively Simple DNA Molecules
  • 11.2 Mitochondria and Chloroplasts Contain DNA Similar to Bacteria and Viruses
  • 11.3 Specialized Chromosomes Reveal Variations in the Organization of DNA
  • 11.4 DNA Is Organized into Chromatin in Eukaryotes
  • 11.5 Eukaryotic Genomes Demonstrate Complex Sequence Organization Characterized by Repetitive DNA
  • 11.6 The Vast Majority of a Eukaryotic Genome Does Not Encode Functional Genes
  • EXPLORING GENOMICS
    • Database of Genomic Variants: Structural Variations in the Human Genome
  • CASE STUDY: Helping or hurting?
  • Insights and Solutions
  • Problems and Discussion Questions
• 12 The Genetic Code and Transcription
  • 12.1 The Genetic Code Exhibits a Number of Characteristics
  • 12.2 Early Studies Established the Basic Operational Patterns of the Code
  • 12.3 Studies by Nirenberg, Matthaei, and Others Deciphered the Code
  • 12.4 The Coding Dictionary Reveals the Function of the 64 Triplets
  • 12.5 The Genetic Code Has Been Confirmed in Studies of Bacteriophage MS2
  • 12.6 The Genetic Code Is Nearly Universal
  • 12.7 Different Initiation Points Create Overlapping Genes
  • 12.8 Transcription Synthesizes RNA on a DNA Template
  • 12.9 RNA Polymerase Directs RNA Synthesis
  • 12.10 Transcription in Eukaryotes Differs from Bacterial Transcription in Several Ways
  • 12.11 The Coding Regions of Eukaryotic Genes Are Interrupted by Intervening Sequences Called Introns
    • EVOLVING CONCEPT OF THE GENE
  • 12.12 RNA Editing May Modify the Final Transcript
  • 12.13 Transcription Has Been Visualized by Electron Microscopy
  • CASE STUDY: Treatment dilemmas
  • GENETICS, ETHICS, AND SOCIETY
    • Treating Duchenne Muscular Dystrophy with Exon-Skipping Drugs
  • Insights and Solutions
  • Problems and Discussion Questions
• 13 Translation and Proteins
  • 13.1 Translation of mRNA Depends on Ribosomes and Transfer RNAs
  • 13.2 Translation of mRNA Can Be Divided into Three Steps
  • 13.3 High-Resolution Studies Have Revealed Many Details about the Functional Bacterial Ribosome
  • 13.4 Translation Is More Complex in Eukaryotes
  • 13.5 The Initial Insight That Proteins Are Important in Heredity Was Provided by the Study of Inborn
  • 13.6 Studies of Neurospora Led to the One-Gene: One-Enzyme Hypothesis
  • 13.7 Studies of Human Hemoglobin Established That One Gene Encodes One Polypeptide
    • EVOLVING CONCEPT OF THE GENE
  • 13.8 Variation in Protein Structure Is the Basis of Biological Diversity
  • 13.9 Proteins Function in Many Diverse Roles
  • CASE STUDY: Crippled ribosomes
  • Insights and Solutions
  • Problems and Discussion Questions
• 14 Gene Mutation, DNA Repair, and Transposition
  • 14.1 Gene Mutations Are Classified in Various Ways
  • 14.2 Mutations Can Be Spontaneous or Induced
  • 14.3 Spontaneous Mutations Arise from Replication Errors and Base Modifications
  • 14.4 Induced Mutations Arise from DNA Damage Caused by Chemicals and Radiation
  • 14.5 Single-Gene Mutations Cause a Wide Range of Human Diseases
  • 14.6 Organisms Use DNA Repair Systems to Counteract Mutations
  • 14.7 The Ames Test Is Used to Assess the Mutagenicity of Compounds
  • 14.8 Transposable Elements Move within the Genome and May Create Mutations
  • CASE STUDY: An unexpected diagnosis
  • Insights and Solutions
  • Problems and Discussion Questions
• 15 Regulation of Gene Expression in Bacteria
  • 15.1 Bacteria Regulate Gene Expression in Response to Environmental Conditions
  • 15.2 Lactose Metabolism in E. coli Is Regulated by an Inducible System
  • 15.3 The Catabolite-Activating Protein (CAP) Exerts Positive Control over the lac Operon
  • 15.4 The Tryptophan (trp) Operon in E. coli Is a Repressible Gene System
    • EVOLVING CONCEPT OF THE GENE
  • 15.5 RNA Plays Diverse Roles in Regulating Gene Expression in Bacteria
  • 15.6 CRISPR-Cas Is an Adaptive Immune System in Bacteria
  • CASE STUDY: MRSA in the National Football League (NFL)
  • Insights and Solutions
  • Problems and Discussion Questions
• 16 Regulation of Gene Expression in Eukaryotes
  • 16.1 Organization of the Eukaryotic Cell Facilitates Gene Regulation at Several Levels
  • 16.2 Eukaryotic Gene Expression Is Influenced by Chromatin Modifications
  • 16.3 Eukaryotic Transcription Initiation Requires Specific Cis-Acting Sites
  • 16.4 Eukaryotic Transcription Initiation Is Regulated by Transcription Factors That Bind to Cis-Acti
  • 16.5 Activators and Repressors Interact with General Transcription Factors and Affect Chromatin Stru
  • 16.6 Regulation of Alternative Splicing Determines Which RNA Spliceforms of a Gene Are Translated
  • 16.7 Gene Expression Is Regulated by mRNA Stability and Degradation
  • 16.8 Noncoding RNAs Play Diverse Roles in Posttranscriptional Regulation
  • 16.9 mRNA Localization and Translation Initiation Are Highly Regulated
  • 16.10 Posttranslational Modifications Regulate Protein Activity
  • EXPLORING GENOMICS
    • Tissue-Specific Gene Expression
  • CASE STUDY: A mysterious muscular dystrophy
  • Insights and Solutions
  • Problems and Discussion Questions
• 17 Recombinant DNA Technology
  • 17.1 Recombinant DNA Technology Began with Two Key Tools: Restriction Enzymes and Cloning Vectors
  • 17.2 DNA Libraries Are Collections of Cloned Sequences
  • 17.3 The Polymerase Chain Reaction is A Powerful Technique for Copying DNA
  • 17.4 Molecular Techniques for Analyzing DNA and RNA
  • 17.5 DNA Sequencing Is the Ultimate Way to Characterize DNA at the Molecular Level
  • 17.6 Creating Knockout and Transgenic Organisms for Studying Gene Function
  • 17.7 Genome Editing with CRISPR-Cas
  • EXPLORING GENOMICS
    • Manipulating Recombinant Dna: Restriction Mapping
  • CASE STUDY: Ethical issues and genetic technology
  • Insights and Solutions
  • Problems and Discussion Questions
• 18 Genomics, Bioinformatics, and Proteomics
  • 18.1 Whole-Genome Sequencing Is Widely Used for Sequencing and Assembling Entire Genomes
  • 18.2 DNA Sequence Analysis Relies on Bioinformatics Applications and Genome Databases
  • 18.3 The Human Genome Project Revealed Many Important Aspects of Genome Organization in Humans
  • 18.4 The “Omics” Revolution Has Created a New Era of Biological Research
    • EVOLVING CONCEPT OF THE GENE
  • 18.5 Comparative Genomics Provides Novel Information about the Human Genome and the Genomes of Model
  • 18.6 Metagenomics Applies Genomics Techniques to Environmental Samples
  • 18.7 Transcriptome Analysis Reveals Profiles of Expressed Genes in Cells and Tissues
  • 18.8 Proteomics Identifies and Analyzes the Protein Composition of Cells
  • 18.9 Synthetic Genomes and the Emergence of Synthetic Biology
  • GENETICS, ETHICS, AND SOCIETY
    • Privacy and Anonymity in the Era of Genomic Big Data
  • EXPLORING GENOMICS
    • Contigs, Shotgun Sequencing, and Comparative Genomics
  • CASE STUDY: Your microbiome may be a risk factor for disease�
  • Insights and Solutions
  • Problems and Discussion Questions
• 19 The Genetics of Cancer
  • 19.1 Cancer Is a Genetic Disease at the Level of Somatic Cells
  • 19.2 Cancer Cells Contain Genetic Defects Affecting Genomic Stability, DNA Repair, and Chromatin Mod
  • 19.3 Cancer Cells Contain Genetic Defects Affecting Cell-Cycle Regulation
  • 19.4 Proto-oncogenes and Tumor-suppressor Genes Are Altered in Cancer Cells
  • 19.5 Cancer Cells Metastasize and Invade Other Tissues
  • 19.6 Predisposition to Some Cancers Can Be Inherited
  • 19.7 Environmental Agents Contribute to Human Cancers
  • GENETICS, ETHICS, AND SOCIETY
    • Breast Cancer: The Ambiguities and Ethics of Genetic Testing
  • CASE STUDY: Cancer-killing bacteria
  • Insights and Solutions
  • Problems and Discussion Questions
• 20 Quantitative Genetics and Multifactorial Traits
  • 20.1 Quantitative Traits Can Be Explained in Mendelian Terms
  • 20.2 The Study of Polygenic Traits Relies on Statistical Analysis
  • 20.3 Heritability Values Estimate the Genetic Contribution to Phenotypic Variability
  • 20.4 Twin Studies Allow an Estimation of Heritability in Humans
  • 20.5 Quantitative Trait Loci Are Useful in Studying Multifactorial Phenotypes
  • CASE STUDY: A chance discovery
  • GENETICS, ETHICS, AND SOCIETY
    • Rice, Genes, and the Second Green Revolution
  • Insights and Solutions
  • Problems and Discussion Questions
• 21 Population and Evolutionary Genetics
  • 21.1 Genetic Variation Is Present in Most Populations and Species
  • 21.2 The Hardy–Weinberg Law Describes Allele Frequencies and Genotype Frequencies in Population Ge
  • 21.3 The Hardy–Weinberg Law Can Be Applied to Human Populations
  • 21.4 Natural Selection Is a Major Force Driving Allele Frequency Change
  • 21.5 Mutation Creates New Alleles in a Gene Pool
  • 21.6 Migration and Gene Flow Can Alter Allele Frequencies
  • 21.7 Genetic Drift Causes Random Changes in Allele Frequency in Small Populations
  • 21.8 Nonrandom Mating Changes Genotype Frequency but Not Allele Frequency
  • 21.9 Speciation Can Occur through Reproductive Isolation
  • 21.10 Phylogeny Can Be Used to Analyze Evolutionary History
  • GENETICS, ETHICS, AND SOCIETY
    • Tracking Our Genetic Footprints out of Africa
  • CASE STUDY: A tale of two Olivias
  • Insights and Solutions
  • Problems and Discussion Questions
• SPECIAL TOPICS IN MODERN GENETICS 1
  • Epigenetics
  • ST 1.1 Molecular Alterations to the Genome Create an Epigenome
  • ST 1.2 Epigenetics and Monoallelic Gene Expression
  • ST 1.3 Epigenetics and Cancer
  • ST 1.4 Epigenetic Traits Are Heritable
  • ST 1.5 Epigenome Projects and Databases
• SPECIAL TOPICS IN MODERN GENETICS 2
  • Genetic Testing
  • ST 2.1 Testing for Prognostic or Diagnostic Purposes
  • ST 2.2 Prenatal Genetic Testing to Screen for Conditions
  • BOX 1 Recommended Uniform Screening Panel
  • ST 2.3 Genetic Testing Using Allele-Specific Oligonucleotides
  • ST 2.4 Microarrays for Genetic Testing
  • ST 2.5 Genetic Analysis of Individual Genomes by DNA Sequencing
  • BOX 2 Undiagnosed Diseases Network
  • BOX 3 Genetic Analysis for Pathogen Identification During Infectious Disease Outbreaks
  • ST 2.6 Genome-Wide Association Studies Identify Genome Variations That Contribute to Disease
  • ST 2.7 Genetic Testing and Ethical, Social, and Legal Questions
• SPECIAL TOPICS IN MODERN GENETICS 3
  • Gene Therapy
  • ST 3.1 What Genetic Conditions Are Candidates for Treatment by Gene Therapy?
  • ST 3.2 How Are Therapeutic Genes Delivered?
  • BOX 1 ClinicalTrials.gov
  • ST 3.3 The First Successful Gene Therapy Trial
  • ST 3.4 Gene Therapy Setbacks
  • ST 3.5 Recent Successful Trials by Conventional Gene Therapy Approaches
  • ST 3.6 Genome-Editing Approaches to Gene Therapy
  • ST 3.7 Future Challenges and Ethical Issues
  • BOX 2 Glybera: The First Commercial Gene Therapy to be Approved in the West Lasted Only Five Years
  • BOX 3 Gene Doping for Athletic Performance?
• SPECIAL TOPICS IN MODERN GENETICS 4
  • Advances in Neurogenetics: The Study of Huntington Disease
  • ST 4.1 The Search for the Huntington Gene
  • BOX 1 George Huntington and His Namesake Disease
  • ST 4.2 The HTT Gene and Its Protein Product
  • ST 4.3 Molecular and Cellular Alterations in Huntington Disease
  • ST 4.4 Transgenic Animal Models of Huntington Disease
  • ST 4.5 Cellular and Molecular Approaches to Therapy
• SPECIAL TOPICS IN MODERN GENETICS 5
  • DNA Forensics
  • ST 5.1 DNA Profiling Methods
  • BOX 1 The Pitchfork Case: The First Criminal Conviction Using DNA Profiling
  • ST 5.2 Interpreting DNA Profiles
  • ST 5.3 Technical and Ethical Issues Surrounding DNA Profiling
  • BOX 2 The Kennedy Brewer Case: Two Bite-Mark Errors and One Hit
  • BOX 3 A Case of Transference: The Lukis Anderson Story
• SPECIAL TOPICS IN MODERN GENETICS 6
  • Genetically Modified Foods
  • ST 6.1 What Are GM Foods?
  • BOX 1 The Tale of GM Salmon—Downstream Effects?
  • ST 6.2 Methods Used to Create GM Plants
  • ST 6.3 GM Foods Controversies
  • BOX 2 The New CRISPR Mushroom
  • ST 6.4 The Future of GM Foods
• SPECIAL TOPICS IN MODERN GENETICS 7
  • Genomics and Precision Medicine
  • ST 7.1 Pharmacogenomics
  • BOX 1 Preemptive Pharmacogenomic Screening: The PGEN4Kids Program
  • ST 7.2 Precision Oncology
  • BOX 2 Precision Cancer Diagnostics and Treatments: The Lukas Wartman Story
  • BOX 3 Cell Types in the Innate and Adaptive Immune Systems
  • BOX 4 Steps in Cytotoxic T-cell Recognition, Activation, and Destruction of Cancer Cells
  • ST 7.3 Precision Medicine and Disease Diagnostics
  • ST 7.4 Technical, Social, and Ethical Challenges
  • BOX 5 Beyond Genomics: Personal Omics Profiling
• Appendix Solutions to Selected Problems and Discussion Questions
• Glossary
• Credits
• Index
  • A
  • B
  • C
  • D
  • E
  • F
  • G
  • H
  • I
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  • K
  • L
  • M
  • N
  • O
  • P
  • Q
  • R
  • S
  • T
  • U
  • V
  • W
  • X
  • Y
  • Z
• Back Cover

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