Human Genetics - Concepts and Applns

498 Pages·2008·235.598 MB·English

by  R. Lewis

E EIGHTH EDITION
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Case Workbook to accompany
N Concepts and Applications
Human Genetics
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by Ricki Lewis
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ISBN 13: 978-0-07-284854-0
ISBN 10: 0-07-284854-5 I
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Specifi cally designed to support the concepts presented in Human Genetics, S
this workbook has been updated and presents over 70 real, chapter-related
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case studies adapted from scientifi c and medical journals. Each case study
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is followed by a set of critical-thinking questions, making this workbook an n
excellent tool to assess your understanding of chapter concepts and prepare c
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for exams.
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Genetics: From Genes to Genomes CD-ROM d

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ISBN 13: 978-0-07-246261-6
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ISBN 10: 0-07-246261-2 p
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Covering the most challenging genetics concepts, this c
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CD-ROM makes the concepts more understandable t
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through the presentation of full-color, narrated animations o
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and interactive exercises. s
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W RICKI LEWIS
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S
Human Genetics
Concepts and Applications
Eighth Edition
Ricki L ewis
Genetic Counselor
CareNet Medical Group
Schenectady, New York
F ellow
Alden March Bioethics Institute
Albany Medical College
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HUMAN GENETICS, EIGHTH EDITION
Published by McGraw-Hill, a business unit of The McGraw-Hill Companies, Inc., 1221 Avenue of the
Americas, New York, NY 10020. Copyright © 2008 by The McGraw-Hill Companies, Inc. All rights reserved.
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About the Author
Ricki Lewis has built a multifaceted career
around communicating the excitement of
life science, especially genetics and biotech-
nology. She earned her Ph.D. in genetics
in 1980 from Indiana University, working
with homeotic mutations in Drosophila
melanogaster.
Ricki is the original author of L ife, an
introductory biology text; co-author of two
human anatomy and physiology textbooks;
and author of D iscovery: Windows on the Life
Sciences, an essay collection. She writes and
speaks frequently on research and news in
genetics, biotechnology, and neuroscience
and blogs at blog.bioethics.net. Since 1980,
Ricki has published widely, including one
of the first stories on DNA profiling, in
Discover magazine. She has taught a variety
of life science courses at Miami University,
the University at Albany, Empire State
College, and community colleges. She has
also written a novel about stem cells, genetic
disease, and iPods.
Ricki has been a genetic counselor for a
large private medical practice in Schenectady,
NY, since 1984, and is very active as a hospice
volunteer.
Ricki lives in upstate New York and some-
times Martha's Vineyard with chemist hus-
band Larry, three daughters, and many cats.
She can be reached at [email protected].
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Dedicated to
Benzena Tucker
and Glenn Nichols,
who taught me the
value of optimism.
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Brief Contents
PART ONE
Introduction 1
1 Overview of Genetics 1
2 Cells 17
3 Meiosis and Development 41
PART TWO
Transmission Genetics 69
4 Single-Gene Inheritance 69
5 Beyond Mendel's Laws 89
6 Matters of Sex 107
7 Multifactorial Traits 131
8 Genetics of Behavior 151
PART THREE
PART ONE, 1 PART FOUR, 265
DNA and Chromosomes 165
9 DNA Structure
and Replication 165
10 Gene Action: From
DNA to Protein 179
11 Control of Gene
Expression and Genome
Architecture 199
12 Gene Mutation 213
13 Chromosomes 239
PART FOUR
Population Genetics 265
14 Constant Allele
Frequencies 265
15 Changing Allele
Frequencies 281
PART TWO, 69 PART FIVE, 327
16 Human Ancestry and
Eugenics 301
PART FIVE
Immunity and Cancer 327
17 Genetics of Immunity 327
18 Genetics of Cancer 353
PART SIX
Genetic Technology 375
19 Genetic Technologies:
Amplifying, Modifying,
and Monitoring DNA 375
20 Genetic Testing
and Treatment 393
21 Reproductive
Technologies 413
PART THREE, 165 PART SIX, 375
22 Genomics 429
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List of Boxes
Readings In Their Own Words
1 .1 Introducing DNA 3 The Y Wars 110
2 .1 Inborn Errors of Metabolism Familial Dysautonomia:
Affect the Major Rebekah's Story 224
Biomolecules 19 Genocide by Rape in Sudan 283
2 .2 Faulty Ion Channels Cause p53: A Family's View 366
Inherited Disease 26 The First Gene Therapy Patient 405
3 .1 The Centenarian Genome 63
Bioethics: Choices
4 .1 It's All in the Genes 75
6 .1 Of Preserved Eyeballs for the Future
and Duplicated Genes—
Colorblindness 120 Genetic Testing 13
7 .1 Solving a Problem: Why a Clone is Not an Exact READINGS
Duplicate 52
Connecting Cousins 138
When Diagnosing a Fetus Also
9 .1 DNA Makes History 171
Diagnoses a Parent: Huntington
1 0.1 Considering Kuru 194
Disease (HD) 77
1 2.1 Fragile X Mutations Sex Reassignment: Making
Affect Boys and Their a Biological “He” into
Grandfathers 226 a Social “She” 113
1 4.1 DNA Profi ling: Molecular Blaming Genes 153
Genetics Meets Population Population Biobanks 277
Genetics 272
Two Views of Neural Tube Defects 320
1 5.1 Antibiotic Resistance:
Pig Parts 347
The Rise of MRSA 291
The Ethics of Using a Recombinant
1 6.1 What Makes Us Human? 312 Drug: EPO 383
1 8.1 Erin's Story: How Gleevec Canavan Disease: Patients
Treats Leukemia 364 Versus Patents 408
IN THEIR OWN WORDS
2 2.1 Discovering the Huntington Technology Too Soon?
Disease Gene 431 The Case of ICSI 420
vvii BIOETHICS
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Clinical Coverage
Chapter Opening
Case Studies
1 Superboy 14 A Reversal of Fortune
2 S tem Cells Restore Sight, 15 The Evolution of Lactose
But Not Vision Intolerance
3 S elling Eggs: Vanessa's Story 16 Lonely Humanity
4 Cystic Fibrosis, Then and Now
17 Gene Expression in Rheumatoid
5 The Many Faces of Alkaptonuria Arthritis
6 A Family Tragedy Averted
18 Microarrays Illuminate Thyroid
7 C left Lip and Palate Cancer
8 Chronic Fatigue Syndrome
19 A Brief History of Cheese
9 O n the Meaning of Gene
20 Gene Therapy for Canavan
10 The Evolving Story of Marfan
Disease
Syndrome
21 Postmortem Sperm Retrieval
11 Uncloaking a Cancer
22 An Alga Helps Explain a Human
12 Two Mutations Strike One
Disease
Gene—And One Little Girl
13 A Late Diagnosis
Solving a Problem
Segregation 77 Connecting Cousins 138
Following More Than One From DNA to RNA to Protein 191
Segregating Gene 80 The Hardy-Weinberg Equation 268
Conditional Probability 83 Comparing Chimps and Humans 310
Linkage 101 Interpreting a DNA Sequence
X-Linked Inheritance 117 Variation Microarray 388
Special Chapters
“People with Chromosomal
Abnormalities” Chapter 13
“Peoples of the Past” Chapter 16
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Contents
About the Author iii Chapter 2 3.6 Maturation and Aging 60
Adult-Onset Inherited Disorders 60
List of Boxes vi Cells 17
Disorders That Resemble
Clinical Coverage vii 2.1 The Components Accelerated Aging 61
of Cells 18 Is Longevity Inherited? 62
Preface xii
Chemical Constituents of Cells 18
Visual Preview xvi Organelles 20
The Plasma Membrane 24
The Cytoskeleton 26 PART TWO
2.2 Cell Division
and Death 28
Transmission
PART ONE The Cell Cycle 28 Genetics 69
Apoptosis 32
2.3 Cell-Cell Interactions 33
Chapter 4
Introduction 1 Signal Transduction 33
Cellular Adhesion 33 Single-Gene Inheritance 69
2.4 Stem Cells and Cell
4.1 Following the Inheritance
Chapter 1 Specialization 34
of One Gene—
Cell Lineages 34
Overview of Genetics 1 Segregation 70
Using Embryos 36
Mendel the Man 70
1.1 Levels of Genetics 2 Using “Adult” Stem Cells 37
Mendel's Experiments 70
DNA 2
Terms and Tools to Follow
Chapter 3
Genes, Chromosomes,
Segregating Genes 71
and Genomes 2 Meiosis And Development 41 4.2 Single-Gene Inheritance
Cells, Tissues, and Organs 4 in Humans 74
Individual 4 3.1 The Reproductive
Modes of Inheritance 74
Family 5 System 42
On the Meaning of Dominance
Population 5 The Male 42
and Recessiveness 78
Evolution 5 The Female 42 4.3 Following the
1.2 Most Genes Do Not 3.2 Meiosis 43
Inheritance of Two
Function Alone 7 3.3 Gamete Maturation 47
Genes—Independent
Genes and Disease Risk 8 Sperm Formation 47 Assortment 78
Genetic Determinism 8 Oocyte Formation 49
Mendel's Second Law 79
1.3 Applications 3.4 Prenatal Development 50
4.4 Pedigree Analysis 81
of Genetics 8 Fertilization 50
Pedigrees Then and Now 82
Establishing Identity Cleavage and Implantation 50
Pedigrees Display Mendel's Laws 83
and Ancestry 9 The Embryo Forms 52
Health Care 10 Supportive Structures Form 53 Chapter 5
Agriculture 11 Multiples 54
Ecology 11 The Embryo Develops 56 Beyond Mendel's Laws 89
A Global Perspective 12 The Fetus Grows 57 5.1 When Gene Expression
3.5 Birth Defects 58
Appears to Alter
The Critical Period 58
Mendelian Ratios 90
Teratogens 58
Lethal Allele Combinations 90
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Multiple Alleles 90 Fingerprint Patterns 133 9.2 DNA Structure 169
Different Dominance Height 133 9.3 DNA Replication—
Relationships 91 Eye Color 134 Maintaining Genetic
Epistasis 92 Skin Color 135 Information 173
Penetrance and Expressivity 92 7.2 Investigating Multifactorial Replication Is Semiconservative 173
Pleiotropy 93 Traits 136 Steps of DNA Replication 175
Genetic Heterogeneity 95 Empiric Risk 137
Chapter 10
Phenocopies 95 Heritability 137
The Human Genome Sequence Adopted Individuals 140 Gene Action: From
Adds Perspective 95 Twins 140 DNA to Protein 179
5.2 Maternal Inheritance and Association Studies 141
Mitochondrial Genes 96 7.3 Two Multifactorial 10.1 Transcription 180
Mitochondrial Disorders 97 Traits 144 RNA Structure and Types 180
Heteroplasmy 98 Heart Health 144 Transcription Factors 182
Mitochondrial DNA Weight 145 Steps of Transcription 183
Reveals the Past 98 RNA Processing 184
5.3 Linkage 98 10.2 Translation of a
Chapter 8
Protein 186
Discovery in Pea Plants 98
Linkage Maps 99 Genetics of Behavior 151 Deciphering the Genetic Code 186
The Evolution of Gene Mapping 102 Building a Protein 189
8.1 Genes Contribute to 10.3 Protein Folding 191
Chapter 6 Most Behavioral
Traits 152 Chapter 11
Matters of Sex 107
8.2 Eating Disorders 154
Control of Gene
6.1 Sexual Development 108 8.3 Sleep 155
Expression and Genome
Sex Chromosomes 108 Narcolepsy 155 Architecture 199
The Phenotype Forms 109 Familial Advanced Sleep
Is Homosexuality Inherited? 113 Phase Syndrome 156 11.1 Gene Expression Through
Sex Ratio 114 8.4 Intelligence 156 Time and Tissue 200
6.2 Traits Inherited on Sex 8.5 Drug Addiction 158 Globin Chain Switching 200
Chromosomes 115 8.6 Mood Disorders 158 Building Tissues and Organs 201
X-Linked Recessive Inheritance 116 8.7 Schizophrenia 160 Proteomics 202
11.2 Mechanisms of Gene
X-Linked Dominant Inheritance 116
6.3 Sex-Limited and Sex- Expression 203
Infl uenced Traits 119 Chromatin Remodeling 204
Sex-Limited Traits 119 PART THREE RNA Interference 205
11.3 Proteins Outnumber
Sex-Infl uenced Traits 120
6.4 X Inactivation 121 Genes 206
DNA and 11.4 Most of the Human
Equaling Out the Sexes 121
Chromosomes 165 Genome Does N ot
Effect on the Phenotype 122
Encode Protein 208
Subtle Effects of X Inactivation 123
6.5 Genomic Imprinting 124 Viral DNA 208
Silencing the Contribution Chapter 9 Noncoding RNAs 209
From One Parent 124 Repeats 209
DNA Structure
Imprinting Disorders
and Replication 165 Chapter 12
in Humans 125
A Sheep With a Giant Rear End 126 9.1 Experiments Identify Gene Mutation 213
and Describe the Genetic
Chapter 7 12.1 Mutations Can Alter
Material 166
Proteins—Three
Multifactorial Traits 131 DNA Is the Hereditary Molecule 166 Examples 215
7.1 Genes and the Environment Protein Is Not the Hereditary The Beta Globin Gene Revisited 215
Mold Most Traits 132 Molecule 167 Disorders of Orderly Collagen 216
Polygenic Traits Are Discovering the Structure Early-Onset Alzheimer Disease 217
Continuously Varying 132 of DNA 167 One Disorder or Several? 217
Contents ix
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