part one by jianglifang

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									Contents
About the Author    iv
List of Boxes vi
Preface xiii



part one
   Introduction          1
                                                      Chapter 2
                                                         Cells   17
         Chapter 1                          2.1 The Components of Cells        18
     Overview of Genetics    1                  Chemical Constituents of
1.1 A Look Ahead         2                      Cells 18
                                                Organelles 19
1.2 The Language of Genetics            5
                                                   Reading 2.1: Inherited
    Levels of Genetics: From                       Illnesses at the Chemical
    DNA to Populations 5                           Level 20
    A Case Study: Inherited
    Sensitivity to Benzene                      The Cell Membrane 25
    Exposure 7                                  The Cytoskeleton 26
    Genes Do Not Usually                           Reading 2.2: Inherited
    Function Alone 7                               Diseases Caused by Faulty
    Geneticists Use Statistics to                  Ion Channels 27
    Represent Risks 8
                                            2.2 Cell Division and Death       29
1.3 Applications of Genetics        9
                                                The Cell Cycle 29
    Establishing Identity—From                  Apoptosis 32
    Forensics to Rewriting
                                            2.3 Cell-Cell Interactions   34
    History 9
    Health Care—Genetic                         Signal Transduction      34
    Diseases Differ from Other                  Cell Adhesion 34
    Diseases 10                             2.4 Stem Cells and Cell
      In Their Own Words: Living            Specialization 35
      with Hemophilia 11                    2.5 Viruses and Prions—Not
    Agriculture    12                       Cells, But Infectious 36
      Bioethics: From Iceland to                A Prion—One Protein that
      GATTACA 13                                Takes Two Forms 37




                                                                                    vii
                                                   Mendel’s Laws Apply to                Phenocopies—When It’s Not
             Chapter 3                             Humans, Too 68                        in the Genes 91
                                                   Mendel’s Experiments 69               Genetic Heterogeneity—
            Development    41
                                                   Chromosome Behavior in                More than One Way to
3.1 The Reproductive System               42       Meiosis Explains Mendel’s             Inherit a Trait 92
       The Male 42                                 Law of Segregation 69
                                                                                     5.2 Maternal Inheritance and
       The Female 42                               Representing Mendel’s Law
                                                                                     Mitochondrial Genes 93
                                                   of Segregation 70
3.2 Meiosis 44                                                                           Mitochondrial Disorders 93
                                               4.2 Mendelian Inheritance in
3.3 Gamete Maturation           49                                                       Heteroplasmy Complicates
                                               Humans 72
       Sperm Development 49                                                              Mitochondrial
       Oocyte Development 51                       Modes of Inheritance       72         Inheritance 94

3.4 Prenatal Development             52               Reading 4.1: It’s All in the   5.3 Linkage    95
                                                      Genes 74
       Fertilization 52                                                                  Linkage was Discovered in
       Early Events—Cleavage and                   On the Meaning of                     Pea Plants 95
       Implantation 52                             Dominance and                         Linkage Maps 96
       The Embryo Forms 54                         Recessiveness 75                      Examples of Linked Genes in
       Supportive Structures 54                4.3 Following the Inheritance of          Humans 97
       On the Matter of                        Two Genes—Independent                     The Evolution of Gene
       Multiples 54                            Assortment 76                             Mapping 98
       The Embryo Develops 55
                                               4.4 Pedigree Analysis     78
       The Fetus 56                                                                            Chapter 6
                                                   Pedigrees Then and Now 78
3.5 Birth Defects 58
                                                   Pedigrees Display Mendel’s                Matters of Sex   103
       The Critical Period      58                 Laws 79
       Teratogens 59                                                                 6.1 Sexual Development         104

3.6 Maturation and Aging              60                 Chapter 5                       Sex Chromosomes 104
                                                                                         The Phenotype Forms 105
       Adult-Onset Inherited
                                                     Extensions and Exceptions           Gender Identity—Is
       Disorders 61
                                                      to Mendel’s Laws 85                Homosexuality
       Accelerated Aging
                                                                                         Inherited? 106
       Disorders 61                            5.1 When Gene Expression Appears
       Is Longevity Inherited?       61        to Alter Mendelian Ratios 86          6.2 Traits Inherited on Sex
                                                                                     Chromosomes 108
         Bioethics: Considering                    Lethal Allele
         Cloning 62                                Combinations 86                       X-Linked Recessive
                                                   Multiple Alleles 86                   Inheritance 108
                                                   Different Dominance                      Reading 6.1: Of
part two
       Transmission Genetics         67
                                                   Relationships 88                         Preserved Eyeballs and
                                                   Epistasis—When One Gene                  Duplicated Genes—Color
                                                   Affects Expression of                    Blindness 110
             Chapter 4                             Another 89
                                                                                         X-Linked Dominant
                                                   Penetrance and
        Mendelian Inheritance    67                                                      Inheritance 113
                                                   Expressivity 90
4.1 Following the Inheritance of                   Pleiotropy—One Gene,              6.3 X Inactivation Evens Out
One Gene—Segregation 68                            Many Effects 91                   the Sexes 114

viii         Contents
6.4 Gender Effects on
Phenotype 116                       part three
                                        DNA and Chromosomes 143
                                                                              RNA Structure 164
                                                                              The Events of
                                                                              Transcription 166
    Sex-limited Traits 116
                                                                              Processing RNA 168
    Sex-influenced Traits 116                  Chapter 8
    Genomic Imprinting 116                                                9.3 Translation—Expressing
                                     DNA Structure and Replication 143    Genetic Information 169
                                    8.1 Experiments Identify
         Chapter 7                  and Describe the Genetic
                                                                                Reading 9.1: RNA—
                                                                                Possibly the Most Important
                                    Material 144                                Molecule in Life 170
           Multifactorial
          and Behavioral                DNA Is the Hereditary                 Deciphering the Genetic
           Traits 123                   Molecule 144                          Code 172
                                        DNA Is the Hereditary                 Building a Protein 174
7.1 Genes and the Environment           Molecule—And Protein Is               Protein Folding 176
Mold Many Traits 124                    Not 144
    Polygenic Traits Are                Deciphering the Structure of              Chapter 10
    Continuously                        DNA 145
    Varying 124                                                                  Gene Mutation   181
                                    8.2 DNA Structure     147
    Fingerprint Patterns, Height,                                         10.1 Mutations Can Alter
    and Eye Color 124               8.3 DNA Replication—
                                                                          Proteins—Three Examples 182
    A Closer Look at Skin           Maintaining Genetic
                                    Information 151                           The Beta Globin Gene 182
    Color 126
                                                                              Disorders of Orderly
7.2 Methods Used to Investigate         Replication is
                                                                              Collagen 184
Multifactorial Traits 127               Semiconservative 151
                                                                              A Mutation that Causes Early-
                                        Steps and Participants in
    Empiric Risk 127                                                          Onset Alzheimer Disease 185
                                        DNA Replication 152
    Heritability—The Genetic                                              10.2 Causes of Mutation      186
    Contribution to a               8.4 PCR—Directing DNA
                                    Replication 154                           Spontaneous Mutation 186
    Multifactorial Trait 128
                                                                              Induced Mutations 188
    Adopted Individuals 129                Reading 8.1: DNA Makes
                                                                              Natural Exposure to
    Twins 129                              History 156
                                                                              Mutagens 189
7.3 Some Multifactorial             8.5 DNA Repair      157
                                                                          10.3 Types of Mutations      190
Traits 131
                                        Three Types of DNA
                                                                              Point Mutations 190
    Heart Health 131                    Repair 157
                                                                              Deletions and Insertions Can
    Body Weight 133                     DNA Repair Disorders        158
                                                                              Cause Frameshifts 191
    Intelligence 135
                                                                              Pseudogenes Are Remnants
    Sleep 136                                 Chapter 9                       of Genes Past 192
    Schizophrenia 136
                                                                              Movable Genes 192
    Alcoholism 138                           Gene Action 163
                                                                              Triplet Repeats and
    Searching for Genes that        9.1 Control of Transcription Is           Expanding Genes 192
    Affect Behavior 138             Complex 164
                                                                                Reading 10.1: Fragile X
      Bioethics: Blaming            9.2 Transcription—The Link                  Syndrome—The First of the
      Genes 139                     Between Gene and Protein 164                Triplet Repeat Disorders 194


                                                                                          Contents           ix
10.4 The Importance of a              11.5 Uniparental Disomy—Two                The Founder Effect 244
Mutation’s Position in the            Genetic Contributions from One             Population Bottlenecks 246
Gene 196                              Parent 221                             13.4 Mutation    247
    Globin Variants 196                                                      13.5 Natural Selection    248
    Inherited Susceptibility to
    Prion Disorders 196               part four
                                           tour
                                         Population Genetics          227
                                                                                   Reading 13.1 Antibiotic
                                                                                   Resistance—Stemming a
10.5 Factors that Lessen the                                                       Biological Arms Race 248
Effects of Mutation 197                        Chapter 12                        Tuberculosis Ups and Downs—
         Chapter 11                       When Allele Frequencies Stay           and Ups 249
                                                                                 Evolving HIV 250
                                               Constant 227
        Chromosomes    201                                                       Balanced Polymorphism 250
                                      12.1 The Importance of Knowing
11.1 Portrait of a                    Allele Frequencies 228                       13.2 Dogs and Cats:
Chromosome 202                                                                     Products of Artificial
                                      12.2 When Allele Frequencies                 Selection                 255
11.2 Visualizing                      Stay Constant—Hardy-Weinberg
Chromosomes 203                       Equilibrium 228                        13.6 Gene Genealogy       256
    Obtaining Cells for               12.3 Practical Applications of             PKU Revisited 256
    Chromosome Study 203              Hardy-Weinberg Equilibrium 231             CF Revisited 257
    Preparing Cells for Chromosome
    Observation 206
                                      12.4 DNA Fingerprinting—A
                                      Practical Test of Hardy-Weinberg
                                                                                     Chapter 14
11.3 Abnormal Chromosome
                                      Assumptions 232                         Human Origins and Evolution   261
Number 209
                                          DNA Patterns Distinguish           14.1 Human Origins       262
    Polyploidy 209
                                          Individuals 232
    Aneuploidy 209                                                               The Australopithecines 263
                                             Reading 12.1 DNA                    Homo 264
       Reading 11.1: HACs—
                                             Fingerprinting Relies on            Modern Humans 265
       Human Artificial
                                             Molecular Genetics and
       Chromosomes         210                                               14.2 Molecular Evolution       266
                                             Population Genetics 234
11.4 Abnormal Chromosome                                                         Comparing Genomes          266
                                          Population Statistics Are
Structure 215                                                                    Comparing
                                          Used to Interpret DNA
       In Their Own Words: A              Fingerprints 236                       Chromosomes 266
       Personal Look at Klinefelter                                              Comparing Protein
       Syndrome 215                            Chapter 13                        Sequences 266
                                                                                 Comparing DNA
    Deletions and
                                        Changing Allele Frequencies    241       Sequences 268
    Duplications 216
    Translocations 217                13.1 Nonrandom Mating 242              14.3 Molecular Clocks     270
       In Their Own Words:            13.2 Migration      243                    Neanderthals Revisited      270
       Ashley’s Message of                                                       Choosing Clues 271
                                          Historical Clues 243
       Hope 217                                                              14.4 Eugenics    274
                                          Geographical and Linguistic
    Inversions 219                        Clues 244                              Eugenics Early in the
    Isochromosomes and Ring           13.3 Genetic Drift 244                     Twentieth Century 274
    Chromosomes 220

x         Contents
    Eugenics in the 1990s       275    Disorder    306                        Isolating the Gene of
                                                                              Interest 330
       Reading 14.1: Two Views             Cancer—A Loss of Cell Cycle
                                                                              Applications of Recombinant
       of Neural Tube Defects 276          Control 307
                                                                              DNA Technology 331
                                           Inherited versus Sporadic
       Bioethics: Beryllium
                                           Cancer 308                     17.2 Transgenic Organisms 332
       Sensitivity Screening 277
                                       16.2 Characteristics of Cancer         Delivering DNA 332

part five
   Immunity and Cancer         281
                                       Cells 308
                                       16.3 Genes that Cause
                                                                              Transgenic Pharming from
                                                                              Milk and Semen 333
                                       Cancer 310                         17.3 Gene Targeting     336
         Chapter 15                        Oncogenes 311                      Gene-Targeted Mice as
                                           Tumor Suppressors    313           Models 337
     Genetics of Immunity    281
                                             Reading 16.1:                      Bioethics: The Ethics of
15.1 The Importance of Cell
                                             Retinoblastoma—The Two-            Using a Recombinant
Surfaces 282
                                             Hit Hypothesis 314                 Drug: EPO 338
    Blood Groups 282
                                       16.4 A Series of Genetic Changes       When Knockouts Are
    The Human Leukocyte
                                       Causes Some Cancers 317                Normal 339
    Antigens 284
                                           A Rapidly Growing Brain
15.2 The Immune System         285
                                           Tumor 317                              Chapter 18
    Physical Barriers and the Innate       Colon Cancer 318
    Immune Response 285                                                        Gene Therapy and Genetic
    The Acquired Immune                16.5 Cancer Prevention and                 Counseling 343
    Response 287                       Treatment 319
                                                                          18.1 Gene Therapy Successes
15.3 Abnormal Immunity         292         Diet-Cancer Associations 319   and Setbacks 344
                                           Treating Cancer 320
    Inherited Immune                                                          Adenosine Deaminase
    Deficiencies 292                          Reading 16.2: Cancer             Deficiency—Early
    Acquired Immune Deficiency                Death Rates in Different         Success 344
    Syndrome 292                             U.S. Locales 320                 Ornithine Transcarbamylase
    Autoimmunity 294                                                          Deficiency—A Setback 345
    Allergies 294                                                         18.2 The Mechanics of Gene
15.4 Altering Immune                   part six
                                          Genetic Technology    325
                                                                          Therapy 346
Function 295                                                                  Treating the Phenotype 346
    Vaccines 295                                  Chapter 17                  Germline Versus Somatic
    Immunotherapy 297                                                         Gene Therapy 347
    Transplantation 297                     Genetic Engineering 325           Sites of Somatic Gene
                                       17.1 Recombinant DNA                   Therapy 347
       Bioethics: Pig Parts    300
                                       Technology 326                           In Their Own Words: The
         Chapter 16                        Constructing Recombinant             Good News Genetic
                                           DNA Molecules 327                    Disease: Hereditary
    The Genetics of Cancer    305                                               Hemochromatosis 349
                                           Selecting Recombinant DNA
16.1 Cancer as a Genetic                   Molecules 329                      Gene Delivery 350


                                                                                           Contents        xi
18.3 A Closer Look: Treating               19.4 Economic, Ecological, and
Sickle Cell Disease 352                    Evolutionary Concerns 371                        Chapter 21
18.4 Genetic Screening and                        Bioethics: The Butterfly that              Genomics   393
Genetic Counseling 354                            Roared 373
                                                                                 21.1 Technology Fuels Genome
       Genetic Counselors Provide                                                Sequencing and Genomics 394
       Diverse Services 354                          Chapter 20
                                                                                       Reading 21.1: The Needle-
       Scene from a Sickle Cell
                                              Reproductive Technologies   377          in-a-Haystack Search for
       Disease Clinic 355
                                           20.1 New Ways to Make                       the Huntington Disease
       Genetic Counseling
                                           Babies 378                                  Gene 396
       Quandaries and
       Challenges 356                           Grandmother and Mother at            The Sanger Method of DNA
       Perspective: A Slow Start, But           the Same Time 378                    Sequencing 398
       Great Promise 356                        Midlife Motherhood 378               Computers Coax Meaning
                                                A Five-Year Wait 378                 from Genes 399
          Bioethics: Gene Therapy
          Fatalities 357                   20.2 Infertility    379               21.2 The History of the Human
                                                                                 Genome Project 400
            Chapter 19                          Male Infertility 379
                                                Female Infertility 380           21.3 Using Human Genome
                                                                                 Information 402
      Agricultural Biotechnology   361            Reading 20.1: Scrutinizing
                                                  Sperm 380                          DNA Microarrays Will
19.1 Traditional Breeding
                                                                                     Revolutionize Medicine 402
Compared to Biotechnology            363        Infertility Tests   383              Pharmacogenomics 402
    Similar Steps, Different               20.3 Assisted Reproductive            21.4 Genome Information
    Degree of Precision 363                Technologies 384                      Answers and Raises
    Government Regulation of
                                                Donated Sperm—Artificial          Questions 403
    Crops 363
                                                Insemination 384                     The Definition of a
    Biotechnology Provides
                                                A Donated Uterus—Surrogate           Gene 403
    Different Routes to Solving a
                                                Motherhood 384                       Nonhuman Genome
    Problem 363
                                                In Vitro Fertilization 386           Projects 404
19.2 Types of Plant
                                                Gamete Intrafallopian
Manipulations 365                                                                Epilogue: Genome Information
                                                Transfer 387
     Altering Plants at the Gene                Oocyte Banking and               Will Affect You 405
     Level 365                                  Donation 387                           In Their Own Words:
     Altering Plants at the Cellular            Preimplantation Genetic                Genomics: The New
     Level 368                                  Screening 388                          Paradigm 406
19.3 Release of Genetically
                                                  Bioethics: Technology Too
Modified Organisms to the
                                                  Soon? The Case
Environment 369                                                                  Answers                     A-1
                                                  of ICSI 390
       Microcosm Experiments                                                     Glossary                    G-1
       369                                                                       Credits                     C-1
       Field Tests 370                                                           Index                        I-1
       Bioremediation 370



xii           Contents

								
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