The Human Genome: A User's Guide provides a concise discussion of contemporary and relevant topics in human genetics. It begins coverage of the fundamental concepts of genetics and heredity, then illustrates these concepts as they relate to the development of human sexual differentiation and sexuality. The book describes the role of the X and Y chromosomes, the role of hormone-controlled differential gene expression in sex determination, and the role of genetics in sexual orientation and sex-role development. The Human Genome discusses the interface between science and society, covering the basic intellectual processes that underlie genetic analysis and gene therapy. It also looks at the use of cloning techniques to search for genes responsible for such human disease states as cystic fibrosis, cancer, AIDS, and mental illness. Written in an inviting and engaging style, The Human Genome meets the interests and answers the questions of today's students. Key Features: * Offers a concise discussion of contemporary human genetics and relevant topics * Accessible to the reader with no formal science background * Reviews the fundamental principles that underlie genetic analysis, prenatal diagnosis, and gene therapy * Makes use of the most up-to-date information on the genetic aspects of AIDS, sexual orientation, and gender research * Includes a controversial discussion of gene therapy and the "old" and "new" eugenics * Presents stories of real and fictional people, bringing the concepts of human inheritance "to life" * Appropriate as supplemental or recommended reading for courses on human genetics and reproductive biology for majors as well as on genetics for non-majors or sexuality and human development for psychology students

R. Scott Hawley is an Investigator at the Stowers Institute for Medical Research, Kansas City, Missouri, and a Professor of Molecular Biosciences at the University of Kansas in Lawrence. Julia E. Richards is an Associate Professor in the Department of Ophthalmology and Visual Sciences and in the Department of Epidemiology at the University of Michigan in Ann Arbor, Michigan. She teaches introductory genetics to graduate students in the university's School of Public Health.

PREFACE

XVII

SECTION I THE BASICS OF HEREDITY

1

(91)

1 THE ANSWER IN A NUT SHELL: GENES, PROTEINS, AND THE MEANING OF LIFE

1

(11)

2 MENDEL AND THE CONCEPT OF THE GENE What Mendel Did

12

(9)

3 HOW GENES WORK: THE STORY OF HOW GENES ENCODE PROTEINS, OR "THE CENTRAL DOGMA OF MOLECULAR BIOLOGY"

21

(25)

Structure of DNA

21

(4)

Replication of DNA

25

(2)

How Genes Encode Proteins

27

(1)

Production of Messenger RNA: Transcription

28

(2)

mRNA Molecules Direct the Synthesis of Specific Proteins: Translation

30

(2)

How Mutations Alter Sequence of Proteins

32

(4)

Translation Requires an Adapter Molecule Called tRNA

36

(1)

Gene Regulation

37

(7)

Summary

44

(2)

4 HOW GENES MOVE: CHROMOSOMES AND THE PHYSICAL BASIS OF THE LAWS OF MENDEL

46

(27)

The Basic Process of Cell Division is Mitosis

46

(3)

Meiosis Made Simple

49

(7)

Gene Pairs Located on Different Chromosomes Segregate at Random

56

(1)

Recombination and Pairs of Genes That Map on the Same Chromosome

57

(2)

Meiosis Is Executed Quite Differently in Human Males and Females

59

(5)

The Chromosome Theory of Heredity

64

(5)

Failed Meiotic Segregation (Nondisjunction) as Proof of the Chromosome Theory of Heredity

69

(4)

5 ABSENT ESSENTIALS AND MONKEY WRENCHES: HOW MUTATIONS PRODUCE A PHENOTYPE

73

(19)

Patterns of Inheritance

73

(7)

The Relationship between the Nature of the Mutation and the Resulting Phenotype

80

(8)

Summary

88

(4)

SECTION II HOW GENES DETERMINE OUR SEX

92

(42)

6 SEX AND CHROMOSOMES, SEX AND HORMONES, SEX AND

92

(16)

Gonads and Chromosomes

92

(1)

Evidence That TDF Determines Gonadal Sex

93

(2)

The TDF Gene Causes the Indifferent Gonads to Develop as Testes

95

(1)

From the Gonads to Somatic Sex Characteristics

96

(1)

Adrenal Hyperplasia and Ambiguous Genitalia

96

(1)

How Hormones Work

97

(1)

Mutations in the Gene That Encodes the Androgen Receptor

98

(1)

X-Linked Spinal Bulbar Atrophy and Another Role of the Tfm Gene

99

(2)

A Summary of the Basic Mechanism of Sex Determination

101

(1)

Changes in the Number of Sex Chromosomes (or Sex Chromosome Aneuploidy)

102

(6)

7 SEX CAUSES PROBLEMS: THE INACTIVATION OF THE SECOND X CHROMOSOME

108

(12)

The X Chromosome: How Unique It Is!

108

(1)

X Inactivation

109

(1)

Timing, Randomness, and Selection of X Inactivation

110

(1)

Mechanisms of X Inactivation

111

(3)

The Inactive X Chromosome Is Reactivated in the Female Germline

114

(1)

Turner Syndrome

115

(5)

8 GENDER IDENTIFICATION AND SEXUAL ORIENTATION

120

(14)

Mechanisms of Gender Identification

120

(2)

Genetics of Sexual Orientation

122

(7)

Summary

129

(5)

SECTION III WHEN MEIOSIS OF MENDELIAN INHERITANCE FAILS

134

(44)

9 FAILED CHROMOSOME SEGREGATION AND THE ETIOLOGY OF DOWN SYNDROME

134

(15)

Down Syndrome or Trisomy for Chromosome 21

134

(5)

Most Cases of Down Syndrome Are Due to Nondisjunction in the Mother

139

(1)

The Maternal Age Effect

140

(4)

Prenatal Diagnosis of Down Syndrome

144

(2)

Other Human Trisomies

146

(1)

Reprise

146

(3)

10 EXTREME MUTATION: TRIPLET REPEAT SYNDROMES

149

(17)

Huntington Disease

149

(7)

Two Other Well-Known Triplet Repeat Expansion Mutations

156

(1)

Other Triplet Repeat Disorders and Other Diseases

157

(1)

Triple-Repeat Mutations and Fragile Sites

157

(7)

Summary

164

(2)

11 IMPRINTING OR EPIGENETIC CHANGES IN GENES AND CHROMOSOMES

166

(12)

Imprinting at the Chromosomal Level

166

(2)

Imprinting at the Level of the Male and Female Pronucleus

168

(1)

Imprinting in Small Genetic Intervals

169

(2)

How Important Is Imprinting?

171

(1)

Imprinting and Human Behavior (Maybe?)

171

(1)

How Does Imprinting Work?

172

(6)

SECTION IV HUMAN GENES

178

(107)

12 INTRODUCTION TO GENE CLONING

178

(34)

What Is Cloning?

178

(1)

Why Would Anyone Clone Human DNA and What Would They Do with It?

179

(1)

Isolating and Cloning DNA Fragments from Living Organisms

179

(7)

A Molecular Look at Some Simple Viruses

186

(6)

Cloning Fragment A

192

(1)

The Southern Transfer: A Practical "Copy" of a Gel

193

(1)

DNA-DNA Hybridization

193

(2)

Okay, but What about Fragment B? It Was Different in Isolate 3

195

(3)

Cloning the TDF Gene

198

(14)

13 DNA POLYMORPHISMS AS GENETIC MARKERS IN HUMANS (AND THE MIRACLE OF PCR)

212

(19)

RFLPs as a Tool for Genetic Mapping

212

(3)

Microsatellites: A Second Type of DNA Polymorphism

215

(2)

Polymerase Chain Reaction

217

(5)

Comparing Microsatellite and RFLPs as Genetic Markers

222

(1)

Forensic DNA Analysis: A Brief Digression

222

(4)

Other Identity Crises

226

(5)

14 HUMAN GENE MAPPING: A GENERAL APPROACH

231

(18)

What if the Disease-Causing Mutation Does Not Create a Large and Easily Identifiable DNA Polymorphism?

231

(8)

The Basic Process of Human Gene Hunting

239

(1)

Special Techniques in Human Gene Mapping

240

(4)

What Does the Newspaper Mean When It Announces That a Gene Has Been Found?

244

(5)

15 CYSTIC FIBROSIS Mapping of Cystic Fibrosis Gene

249

(6)

16 MAMMOTH GENES: MUSCULAR DYSTROPHY AND NEUROFIBROMATOSIS

255

(16)

Why Are Some Human Genes So Big? (or, Remember "Introns?")

255

(3)

Does Large Size Affect the Genetic Behavior of These Genes?

258

(1)

Duchenne Muscular Dystrophy

259

(4)

Structure and Function of the Muscular Dystrophy Gene

263

(2)

Prenatal Diagnosis and Gene Therapy for Muscular Dystrophy

265

(1)

Neurofibromatosis 1: Another Really Big Gene

265

(6)

17 GENES AND CANCER

271

(14)

Retinoblastoma and Tumor Suppressor Genes

271

(1)

How Can Cells Lose the Normal Rb Gene?

272

(4)

Colon Cancer, Skin Cancer, and Mutations in DNA Repair Genes

276

(4)

Summary

280

(5)

SECTION V INTERACTIONS OF GENES AND THE ENVIRONMENT

285

(38)

18 MULTIFACTORIAL INHERITANCE: TOWARD FINDING THE GENES FOR MANIC DEPRESSION AND SCHIZOPHRENIA

285

(14)

Many Traits Are Specified by More Than One Gene

285

(2)

Many Traits Reflect the Interaction of the Genotype with the Environment

287

(1)

Some Traits May Require a Threshold Number of Deleterious Alleles

287

(3)

The Rules for Multifactorial Inheritance

290

(1)

Some Examples of Complex Human Traits That May (or May Not) Be Examples of Multifactorial Inheritance

291

(8)

19 THE MONOAMINE OXIDASE A GENE AND A GENETIC BASIS FOR CRIMINALITY?

299

(7)

Genetics of Violent Aggression in a Family in Denmark

299

(7)

20 GENETICS OF THE HUMAN AIDS VIRUS

306

(17)

Acquired Immunodeficiency Syndrome

306

(1)

The History of AIDS

307

(1)

Viruses

308

(7)

Treatment of AIDS

315

(1)

Are Some People Genetically Resistant to Infection by HIV?

315

(2)

Bright Lights at the End of the Tunnel

317

(6)

SECTION VI PRENATAL DIAGNOSIS

323

(30)

21 METHODS OF PRENATAL DIAGNOSIS

323

(19)

Noninvasive Tests

323

(6)

More Invasive Tests

329

(3)

Analysis of Fetal Cells

332

(7)

The Conditional Pregnancy

339

(3)

22 POTENTIAL FOR GENE THERAPY

342

(11)

Targeting a Specific Tissue

342

(2)

How Many Cells Need to Be Fixed

344

(1)

The Problem of Correcting Big Genes

345

(1)

Can You Correct the Problem in Time?

345

(2)

Early Attempts at Gene Therapy

347

(1)

Should Gene Therapy Be Limited to Somatic Cells?

348

(4)

One Last Thought about the Science

352

(1)

EPILOGUE: FEARS, FAITH, AND FANTASIES

353

(8)

The American Eugenics Movement

353

(3)

Could It Happen Again?

356

(2)

Maybe We Can Do a Better Job This Time

358

(3)

APPENDIX Suggested Additional Readings

361

(14)

GLOSSARY

375

(28)

INDEX

403

What is included with this book?

The New copy of this book will include any supplemental materials advertised. Please check the title of the book to determine if it should include any access cards, study guides, lab manuals, CDs, etc.

The Used, Rental and eBook copies of this book are not guaranteed to include any supplemental materials. Typically, only the book itself is included. This is true even if the title states it includes any access cards, study guides, lab manuals, CDs, etc.

Amazon no longer offers textbook rentals. We do!

Amazon no longer offers textbook rentals. We do!

We're the #1 textbook rental company. Let us show you why.

The Human Genome: A User's Guide

9780123334602

0123334608

Supplemental Materials

Summary

Author Biography

Table of Contents

Supplemental Materials

Rewards Program