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Tables of Contents for The Human Genome
Chapter/Section Title
Page #
Page Count
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