Our Uncertain Heritage: Genetics & Human Diversity
Hartl (Daniel L.)
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BOOK ABSTRACT:

Author’s Preface

  1. Our Uncertain Heritage is a textbook of human genetics for non-science and non-biology majors. It is written for students who wish to gain some familiarity with human genetics either to satisfy their undergraduate distribution requirements or to satisfy their own curiosity. The book's aim is to provide an understanding of the principles and implications of human genetics without getting bogged down in nonessential details of cellular, molecular, or mathematical biology. The book has no prerequisites, and where the discussion involves concepts that are likely to be unfamiliar to the non-scientist, the necessary background has been provided. However, this background material has been presented in a fresh framework so as to make it interesting even to those who may have encountered it in other courses or in their own reading. This approach is necessary because human genetics has proved to be a popular course with students in sciences other than biology, such as physics, chemistry, geology, mathematics, and the large number of agricultural and engineering fields.
  2. Human genetics, as might be expected, has proved to be a suitable unifying theme for teaching virtually all aspects of genetics. The scope and fascination of human genetics serve to focus and bind together students whose interests are as diverse as art, languages, literature, history, philosophy, anthropology, sociology, and psychology. This popularity of human genetics is due in part to the natural curiosity that nearly everyone shares about the human body and how it works. Most of us are also concerned with one or more hereditary traits, particularly genetic disorders, that may occur in ourselves or among our relatives. Apart from these personal considerations is the fact that new findings in genetics appear almost weekly in popular news magazines, newspapers, or on television – human insulin produced in bacteria, giant mice produced by injection of growth-hormone genes, genetically engineered plants with superior characteristics. Genetics, which in its widest sense includes parts of cell biology, cytology, molecular biology, microbiology, immunology, virology, population biology, and other fields, has become part of everyday life in our high-tech society, and many students perceive that a knowledge of basic human genetics is an important part of their general education.
  3. Human genetics is an appropriate theme for teaching genetics for another reason: It is a lively, challenging field, marked by exciting current research such as recombinant DNA and enormously complex legal, moral, ethical, and social problems. Many of these issues inevitably involve a conflict of rights, interests, or values, and reasonable people may disagree as to how these should be weighed and balanced. In many of these cases, an understanding of the scientific issues is prerequisite for discussion of their social implications. Problems related to the social or ethical implications of human genetics are discussed throughout the text in their appropriate context. I have attempted to give a fair and balanced presentation of each of these controversial topics, having adopted the view that, given the facts, students should deliberate the issues and make their own judgments.
  4. Readers familiar with the first edition will note many changes. This is a different book in many respects. The original 23 chapters have been pared to 14, and some material in the first edition, such as human population growth and an outline of human evolution, has had to be eliminated, whereas other subjects, such as recombinant DNA and cancer-causing viruses, have had to be expanded. These changes in part reflect changes in the field, particularly in the development of the powerful new procedures that have come to be called recombinant DNA and in the growth of understanding of gene structure and function that has been achieved through their application. There are also changes in emphasis in this edition. For example, the discussion of population and quantitative genetics has been rewritten to make it easier, and the discussion of various aspects of behavior genetics has been reorganized into one section in Chapter 14.
  5. This second edition also has several other features that students and instructors had requested. Each chapter is provided with a comprehensive summary1 for purposes of emphasis and review. Key words are highlighted in the text where they are first defined, a list of key words appears at the end of each chapter, and there is a glossary at the end of the book. Each chapter is provided with a set of problems, graded in difficulty, that challenge the students' understanding and test their skills, and answers are worked out in full at the back of the book. End-of-chapter lists of annotated references for further reading, chosen for accessibility as well as for subject and level of presentation, are also provided. I have emphasized such sources as Scientific American, Annual Review of Genetics, Science, Nature, and, for some subjects, Cell.
  6. Some parts of this edition of Our Uncertain Heritage are an abbreviated version of the corresponding material in Human Genetics by D. L. Hartl (Harper & Row, 1983), and students may consult this more technical book for further detail. Other parts of Our Uncertain Heritage are wholly new, such as the discussion of population genetics in Chapter 13 or the new approach to heritability in Chapter 14. One of the advantages of writing a book for non-majors is that the author is less constrained to cover material in a standard manner or from a particular point of view. Thus, I have used analogy rather freely and have incorporated illuminating historical detail, such as the story, in Chapter 5, of hemophilia in Tsarevich Alexis.
  7. The organization of the book is straightforward and proceeds from the less abstract to the more abstract. Chapters 1 through 7 cover classical Mendelian genetics with a focus on cells (Chapter 1), chromosomes and gamete formation (Chapter 2), autosomal dominance (Chapter 3), autosomal-recessive inheritance and linkage (Chapter 4), sex linkage (Chapter 5), and abnormalities in chromosome number (Chapter 6) and structure (Chapter 7). Somatic cell genetics is included in Chapter 4 and general aspects of sexual differentiation in Chapter 5. Some instructors may wish to begin their course with Chapters 8 through 12, which cover DNA structure and replication (Chapter 8), transcription and translation (Chapter 9), mutation (Chapter 10), viruses and cancer (Chapter 11), and immunity and blood groups (Chapter 12). Recombinant DNA is included in Chapter 8, aspects of gene regulation in Chapter 9, transposable elements in Chapter 10, and retroviruses in Chapter 11. The final chapters deal with population genetics (Chapter 13) and quantitative genetics and behavior (Chapter 14), and there is a section on genetic counselling in Chapter 14.
  8. Special thanks should go to …
  9. A few comments about the wordplay in the title are perhaps in order, lest the title be mistaken as an author's failed attempt to be cute. The title does not imply any questioning of the validity of Mendel's laws or associated genetic principles. The play is on the word "uncertain," referring, on the one hand, to the unpredictability of the outcome of segregation and recombination in the transmission of genes from one generation to the next. Prospective parents who decide to have a baby are undertaking a genetic experiment the outcome of which is by no means entirely predictable, and hence is uncertain. A second connotation of uncertain is "dubious," and in this sense the term alludes to the perhaps surprising number of harmful genes hidden in normal individuals—all of us— which, when they come together in unfavorable combinations, cause severe genetic disorders and much unhappiness. The title also plays on "heritage," meaning primarily genetic inheritance in the present context, but also pointing to the social heritage of today's newborns, an uncertain heritage of fearsome problems in a divided and dangerous world.

Chapters
    Preface – ix
  1. Cells and Cell Division – 1
    • Cells – 3
    • Cell Structure – 6
    • Cell Division – 14
    • Mitosis – 16
    • Capturing Chromosomes in Metaphase – 24
    • Genetic Information in the Chromosomes – 25
    • Summary2 – 31
      … Key Words – 32
      … Problems – 32
      … Further Reading – 33
  2. Chromosomes and Gamete Formation – 34
    • Viewing Human Chromosomes – 35
    • Identification of Human Chromosomes – 37
    • Normal Variation in Human Chromosomes – 42
    • Sexual and Asexual Inheritance – 45
    • The Strategy of Meiosis – 46
    • The Mechanics of Meiosis: Prophase I – 47
    • The Mechanics of Meiosis: Later Events – 54
    • Summary of Meiosis – 57
    • Development of Gametes – 57
  3. Mendel's Laws and Dominant Inheritance – 63
    • Some Important Terminology – 66
    • Segregation – 69
    • Dominance – 72
    • Segregation of Genes in Humans – 74
    • Homozygotes3 and Heterozygotes4 – 77
    • Simple Mendelian Inheritance in Humans – 78
    • Human Heredity: Some Cautionary Remarks – 85
    • Simple Mendelian Dominance – 87
  4. Mendel's Laws and Recessive Inheritance – 94
    • Mechanics of Recessive Inheritance – 95
    • Characteristics of Autosomal-Recessive Inheritance – 97
    • Familial Emphysema – 98
    • Cystic Fibrosis – 98
    • Sickle Cell Anemia – 99
    • Tay-Sachs Disease – 102
    • Albinism – 103
    • Independent Assortment, Recombination, and Linkage – 106
    • Linkage in Humans – 109
    • Somatic Cell Genetics – 110
  5. The Genetic Basis of Sex – 118
    • The Sex Ratio – 119
    • Y-linked Genes – 122
    • X-linked Genes – 123
    • Glucose 6-Phosphate Dehydrogenase (G6PD) Deficiency – 126
    • Color Blindness – 127
    • Hemophilia – 127
    • Lesch-Nyhan Syndrome (HGPRT Deficiency) – 132
    • Dosage Compensation – 133
    • Embryonic5 and Fetal Development – 136
    • Teratogens – 140
    • Differentiation of the Sexes – 141
    • Ambiguous Sex – 145
  6. Abnormalities in Chromosome Number – 153
    • Types of Chromosome Abnormality – 154
    • Nondisjunction – 155
    • Sex-chromosomal Abnormalities – 155
    • Trisomy X – 157
    • XYY and Criminality – 157
    • XXY: Klinefelter Syndrome – 160
    • XO: Turner Syndrome – 161
    • Autosomal Abnormalities – 162
    • Trisomy 21: Down Syndrome – 163
    • Trisomy 18: Edwards Syndrome – 167
    • Trisomy 13: Patau Syndrome – 167
    • Amniocentesis – 168
    • Death Before Birth – 172
  7. Abnormalities in Chromosome Structure – 180
    • Chromsome Breakage – 181
    • Duplications and Deficiencies – 182
    • Inversions – 184
    • Reciprocal Translocations – 188
    • Robertsonian Translocations – 192
    • Chromosomal Changes in Evolution – 194
  8. The Double Helix – 201
    • A Chemical Prelude – 202
    • Biological Molecules – 203
    • DNA Structure: A Closer Look – 205
    • Three-dimensional Structures of DNA – 210
    • DNA Replication – 214
    • Restriction Mapping of DNA – 216
    • Recombinant DNA – 221
    • Applications of Recombinant DNA – 222
  9. Gene Expression: Nature Is Blind and Reads Braille – 230
    • The Structure of Proteins – 231
    • Transcription – 236
    • Translation – 238
    • The Genetic Code – 241
    • The Mechanics of Translation – 243
    • RNA Splicing: Introns and Exons – 245
    • Regulation of Gene Expression – 247
    • Hemoglobin Regulation – 248
    • Regulation by DNA Modification – 250
    • DNA Alterations During Development – 252
    • Regulation of Transcription – 256
    • Feedback Inhibition – 258
  10. Mutation – 267
    • Types of Mutations – 268
    • The Genetic Basis of Mutation – 270
    • Missense, Nonsense, Silent, and Frameshift Mutations – 272
    • Rates of Mutation – 276
    • Insertion Mutations and Transposable Elements – 279
    • Radiation as a Cause of Mutation – 281
    • Chemicals as Mutagens – 287
    • The Ames Test – 289
    • Mutagens and Carcinogens in the Environment – 291
  11. Viruses and Cancer
    • Viruses – 300
    • Characteristics of Viruses – 301
    • Lambda; A Viral Parasite of Escherichia coli – 303
    • Influenza Virus – 308
    • Cancer – 311
    • Genetics of Cancer – 312
    • Polyoma: A DNA Tumor Virus – 313
    • Retroviruses, Endogenous Viruses, and Selfish DNA – 315
    • Avian Sarcoma Virus and Cancer – 316
  12. Immunity and Blood Groups
    • The Immune Response – 325
    • Clonal Selection – 327
    • Varieties of Antibody – 330
    • A Closer Look at IgG – 331
    • Gene Splicing and the Origin of Antibody Diversity – 332
    • Breakdowns of Immunity – 335
    • Transplants6 – 336
    • HLA and Disease Associations – 339
    • The ABO Blood Groups – 340
    • The Rh Blood Groups – 346
    • Other Blood Groups – 348
    • Applications of Blood Groups – 349
  13. Population Genetics
    • Genetic Variation – 358
    • Allele Frequencies and Genotype Frequencies – 360
    • Implications of the Hardy-Weinberg Rule – 364
    • Differentiation of Populations: Race – 367
    • Inbreeding – 371
    • Mutation – 375
    • Migration – 377
    • Selection – 379
    • Mutation-Selection Balance – 383
    • Random Genetic Drift – 384
    • Founder Effects – 385
  14. Quantitative and Behavior Genetics – 394
    • Multifactorial Inheritance – 395
    • Multifactorial Traits: An Example – 396
    • Total Fingerprint Ridge Count – 398
    • Heritability – 400
    • Another Type of Heritability – 403
    • Twins7 – 405
    • MZ and DZ Twins8 in the Study of Threshold Traits – 407
    • Heritabilities of Threshold Traits – 409
    • Genetic Counselling – 410
    • Genetics of Human Behavior – 413
    • Male and Female Behavior – 415
    • Race and IQ – 418
  15. Glossary – 425
    Answers – 445
    Credits – 454
    Index – 457



In-Page Footnotes ("Hartl (Daniel L.) - Our Uncertain Heritage: Genetics & Human Diversity")

Footnote 1: It’s probably worth reading these first to determine whether it’s necessary to read the corresponding chapters in detail.

Footnote 2: This Section appears at the end of every Chapter, so is omitted hereafter.


BOOK COMMENT:

HarperCollins Publishers Inc, New York, 1985



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