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
• J
• K
• L
• M
• N
• O
• P
• Q
• R
• S
• T
• U
• V
• W
• X
• Y
• Z
• Back Cover