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Your no-nonsense guide to geneticsWith rapid advances in genomic technologies, genetic testing has become a key part of both clinical practice and research. Scientists are constantly discovering more about how genetics plays a role in health and disease, and healthcare providers are using this information to more accurately identify their patients' particular medical needs. Genetic information is also increasingly being used for a wide range of non-clinical purposes, such as exploring one's ancestry.This new edition of Genetics For Dummies serves as a perfect course supplement for students pursuing degrees in the sciences. It also provides science-lovers of all skill levels with easy-to-follow and easy-to-understand information about this exciting and constantly evolving field. This edition includes recent developments and applications in the field of genetics, such as:* Whole-genome and whole-exome sequencing* Precision medicine and pharmacogenetics* Direct-to-consumer genetic testing for health risks* Ancestry testingFeaturing information on some of the hottest topics in genetics right now, this book makes it easier than ever to wrap your head around this fascinating subject

 

 

TABLE OF CONTENTS:

Introduction 1/ About This Book 1/ Conventions Used in This Book 2/ Foolish Assumptions 2/ How This Book is Organized 3/ Part 1: The Lowdown on Genetics: Just the Basics 3/ Part 2: DNA: The Genetic Material 3/ Part 3: Genetics and Your Health 3/ Part 4: Genetics and Your World 3/ Part 5: The Part of Tens 4/ Icons Used in This Book 4/ Beyond This Book 4/ Where to Go from Here 5/ Part 1: The Lowdown on Genetics: Just the Basics 7/ Chapter 1: Welcome to Genetics: What’s What and Who’s Who 9/ What is Genetics? 9/ Classical genetics: Transmitting traits from generation to generation 10/ Molecular genetics: DNA and the chemistry of genes 11/ Population genetics: Genetics of groups 12/ Quantitative genetics: Getting a handle on heredity 13/ Genetics as a Career 13/ Exploring a genetics lab 14/ Sorting through jobs in genetics 15/ Chapter 2: Basic Cell Biology 21/ Looking Around Your Cell 22/ Cells without a nucleus 22/ Cells with a nucleus 23/ What’s in a nucleus? 25/ Examining the basics of chromosomes 25/ So Where Are My Genes? 27/ Mitosis: Splitting Up 29/ Step 1: Time to grow 30/ Step 2: Divvying up the chromosomes 31/ Step 3: The big divide 33/ Meiosis: Making Cells for Reproduction 34/ Meiosis I 35/ Meiosis II 37/ Mommy, where did I come from? 38/ Chapter 3: Visualize Peas: Discovering the Laws of Inheritance 41/ Gardening with Gregor Mendel 42/ Speaking the Language of Inheritance 44/ Simplifying Inheritance 45/ Establishing dominance 45/ Segregating alleles 47/ Declaring independence 48/ Finding Unknown Alleles 50/ Applying Basic Probability to the Likelihood of Inheritance 50/ Solving Simple Genetics Problems 52/ Deciphering a monohybrid cross 53/ Tackling a dihybrid cross 53/ Chapter 4: Law Enforcement: Mendel’s Laws Applied to Complex Traits 57/ Dominant Alleles Rule Sometimes 58/ Wimping out with incomplete dominance 58/ Keeping it fair with codominance 59/ Dawdling with incomplete penetrance 60/ Alleles Causing Complications 61/ More than two alleles 61/ Lethal alleles 63/ Making Life More Complicated 63/ When genes interact 63/ Genes in hiding 65/ Genes linked together 66/ One gene with many phenotypes 69/ Uncovering More Exceptions to Mendel’s Laws 70/ Epigenetics 70/ Genomic imprinting 70/ Anticipation 71/ Environmental effects 72/ Part 2: DNA: The Genetic Material 73/ Chapter 5: DNA: The Basis of Life 75/ Chemical Ingredients of DNA 76/ Covering the bases 76/ Adding a spoonful of sugar and a little phosphate 78/ Assembling the Double Helix: The Structure of DNA 79/ Starting with one: Weaving a single strand 79/ Doubling up: Adding the second strand 81/ Examining Different Varieties of DNA 85/ Nuclear DNA 85/ Mitochondrial DNA 85/ Chloroplast DNA 86/ Digging into the History of DNA 87/ Discovering DNA 87/ Obeying Chargaff’s rules 88/ Hard feelings and the helix: Franklin, Wilkins, Watson, and Crick 88/ Chapter 6: Chromosomes: The Big Picture 91/ Deconstructing the Double Helix 92/ Anatomy of a Chromosome 93/ Two Chromosomes Are Better than One (or Three) 95/ Sex Chromosomes: Is It a Boy or Girl? 96/ Sex determination in humans 97/ Sex determination in other organisms 101/ Chapter 7: Replication: A Copy Machine for DNA 105/ Unzipped: Creating the Pattern for More DNA 106/ How DNA Copies Itself 109/ Meeting the replication crew 110/ Splitting the helix 113/ Priming the pump 115/ Leading and lagging 115/ Joining all the pieces 117/ Proofreading replication 117/ Replication in Eukaryotes 118/ Pulling up short: Telomeres 118/ Finishing the job 120/ How Circular DNAs Replicate 120/ Theta 121/ Rolling circle 121/ D-loop 122/ Chapter 8: DNA Sequencing: Decoding the Genome 123/ Sequencing: Reading the Language of DNA 124/ Identifying the players in DNA sequencing 124/ Finding the message in sequencing results 127/ Newer, cheaper, faster 127/ Sequencing Your Way to the Human Genome 129/ The Human Genome Project 130/ Trying on a Few Genomes 132/ The yeast genome 134/ The elegant roundworm genome 134/ The chicken genome 135/ Chapter 9: RNA: DNA’s Close Cousin 137/ You Already Know a Lot about RNA 137/ Using a slightly different sugar 138/ Meeting a new base: Uracil 139/ Stranded! 140/ Transcription: Copying DNA’s Message into RNA’s Language 141/ Getting ready to transcribe 142/ Initiation 146/ Elongation 147/ Termination 147/ Post-transcription Processing 148/ Adding cap and tail 148/ Editing the message 149/ Chapter 10: Translating the Genetic Code 151/ Discovering the Good in a Degenerate 152/ Considering the combinations 153/ Framed! Reading the code 154/ Not quite universal 155/ Meeting the Translating Team 155/ Taking the Translation Trip 156/ Initiation 156/ Elongation 159/ Termination 160/ Proteins Are Precious Polypeptides 162/ Recognizing radical groups 162/ Giving the protein its shape 162/ Chapter 11: Gene Expression: What a Cute Pair of Genes 165/ Getting Your Genes Under Control 166/ To Be Expressed or Not To Be Expressed? 166/ Regulating Gene Expression: A Time and Place for Everything 168/ Controlling Transcription Before It Starts 169/ Regulation of Gene Transcription: Flipping the Switch 170/ Sequences controlling genes 170/ Proteins controlling transcription 172/ Hormones controlling transcription 173/ Retroactive Control: Things That Happen after Transcription 174/ Nip and tuck: RNA splicing 175/ Shut up! mRNA silencing 175/ mRNA expiration dates 177/ Gene Control Lost in Translation 177/ Modifying where translation occurs 177/ Modifying when translation occurs 178/ Modifying the protein shape 179/ Prokaryotic Gene Expression 179/ Bacterial gene organization 179/ Bacterial gene expression 180/ Part 3: Genetics and Your Health 181/ Chapter 12: When Things Go Wrong: Changes in DNA Sequence 183/ Heritable or Not Heritable? 184/ Facing the Consequences of Sequence Variants 184/ Sorting Out Terminology 185/ The phenotypic effect of a DNA sequence change 185/ The type of DNA sequence change 186/ What Causes Sequence Variants? 189/ Spontaneous sequence variants 190/ Induced sequence variants 194/ Evaluating Options for DNA Repair 198/ Chapter 13: Chromosome Disorders: It’s All a Numbers Game 199/ Chromosome Numbers: No More and No Less 200/ Aneuploidy: Extra or missing chromosomes 200/ Aneuploidy of the Autosomal Chromosomes 202/ When chromosomes go missing 202/ When too many chromosomes are left in 202/ Aneuploidy of the Sex Chromosomes 205/ Extra Xs 205/ Extra Ys 206/ Monosomy X 206/ Exploring Variations in Chromosome Structure 206/ Duplications 207/ Deletions 208/ Inversions 208/ Translocations 209/ Reciprocal translocations 209/ Robertsonian translocations 210/ Other things that go awry with chromosomes 211/ How Chromosomes Are Studied 212/ Big enough to see 212/ Too small for the naked eye 214/ Non-Invasive Prenatal Testing for Aneuploidy 215/ Chapter 14: Taking a Closer Look at the Genetics of Cancer 217/ Defining Cancer 218/ Benign growths: Not always so harmless 218/ Malignancies: Seriously scary results 219/ Metastasis: Cancer on the move 220/ Recognizing Cancer as a DNA Disease 221/ Exploring the cell cycle and cancer 222/ Demystifying chromosome abnormalities 228/ Breaking Down the Types of Cancers 229/ Hereditary Breast Cancer 231/ Hereditary colorectal cancer 232/ Chapter 15: Genetic Counseling, Risk Assessment, and Genetic Testing 235/ Getting to Know Genetic Counselors 236/ Building and Analyzing a Family Tree 237/ Autosomal Inheritance: No Differences Among the Sexes 240/ Autosomal dominant traits and disorders 240/ Autosomal recessive traits and disorders 241/ Found on Sex Chromosomes: Sex-linked Inheritance 244/ X-linked recessive traits 245/ X-linked dominant traits 247/ Y-linked traits 248/ Sex-limited traits 249/ Sex-influenced traits 249/ Testing for Genetic Disorders 249/ Diagnostic testing 251/ Prenatal diagnosis 251/ Carrier testing 252/ Predictive and susceptibility testing 252/ Preimplantation genetic diagnosis 253/ Pharmacogenetic testing 254/ Chapter 16: Treating Genetic Disorders and Using Genetics to Tailor Treatment 255/ Alleviating Genetic Disease through Gene Therapy 256/ Inserting Healthy Genes into the Picture 256/ Finding Vehicles to Get Genes to Work 259/ Viruses that join right in 260/ Viruses that are a little standoffish 261/ Progress on the Gene Therapy Front 261/ Utilizing Genetic Information for Precision Medicine 263/ Pharmacogenetics (and pharmacogenomics) 263/ Cytochrome P450 and drug metabolism 264/ Decreasing the risk of side effects of treatment 266/ Increasing the effectiveness of treatment 266/ Part 4: Genetics and Your World 269/ Chapter 17: Tracing Human History and the Future of the Planet 271/ Genetic Variation is Everywhere 272/ Allele frequencies 272/ Genotype frequencies 274/ Breaking Down the Hardy-Weinberg Law of Population Genetics 275/ Relating alleles to genotypes 275/ Violating the law 277/ Mapping the Gene Pool 279/ One big happy family 279/ Ancestry testing 280/ Uncovering the secret social lives of animals 281/ Changing Forms over Time: The Genetics of Evolution 282/ Genetic variation is key 283/ Where new species come from 283/ Growing the evolutionary tree 284/ Chapter 18: Solving Mysteries Using DNA 287/ Rooting through Your DNA to Find Your Identity 288/ Investigating the Scene: Where’s the DNA? 290/ Collecting biological evidence 290/ Moving to the lab 292/ Employing DNA to Catch Criminals (And Free the Innocent) 297/ Matching the evidence to the bad guy 297/ Taking a second look at guilty verdicts 299/ It’s All Relative: Finding Family 300/ Paternity testing 300/ Relatedness testing 302/ Chapter 19: Genetic Makeovers: Using Genetic Engineering to Change the Genome 307/ Genetically Modified Organisms Are Everywhere 308/ Old Genes in New Places 309/ Following the transgenesis process 311/ Making a transgene using recombinant DNA technology 311/ Modifying the gene to reside in its new home 313/ Looking at the GMO Menagerie 313/ Transgenic animals 313/ Transgenic insects 316/ Transgenic bacteria 316/ Transgenic plants 318/ Getting new genes into the plant 318/ Exploring commercial applications 319/ Weighing points of contention 320/ Changing the Blueprint: Gene Editing 321/ CRISPR-Cas9 gene editing 323/ Germline versus somatic gene editing 325/ Discussing the ethics of gene editing 325/ Chapter 20: Giving Ethical Considerations Their Due 327/ Profiling Genetic Discrimination 327/ Ordering Up Designer Babies 329/ Ethical Issues Surrounding Genetic Testing 330/ Informed Consent 331/ Patient Autonomy 333/ Privacy and Confidentiality 334/ Incidental Findings 335/ Direct-to-Consumer Testing 336/ Practicing Safe Genetic Treatments 337/ Genetic Property Rights 338/ Part 5: The Part of Tens 339/ Chapter 21: Ten Defining Events in Genetics 341/ The Publication of Darwin’s “The Origin of Species” 341/ The Rediscovery of Mendel’s Work 342/ DNA Transformation 343/ The Discovery of Jumping Genes 344/ The Birth of DNA Sequencing 345/ The Invention of PCR 345/ The Development of Recombinant DNA Technology 346/ The Invention of DNA Fingerprinting 347/ The Birth of Developmental Genetics 347/ The Work of Francis Collins and the Human Genome Project 348/ Chapter 22: Ten Hot Issues in Genetics 349/ Direct-to-Consumer Genetic Testing 349/ Whole Exome Sequencing 350/ Whole Genome Sequencing 352/ Stem Cell Research 352/ The ENCODE Project 353/ Proteomics 354/ Gene Chips 355/ Evolution of Antibiotic Resistance 356/ Circumventing Mother Nature 356/ Genetics from Afar 357/ Glossary 359/ Index 365