Genetics: A Conceptual Approach , Second Edition

833 Pages·2004·25.59 MB·English

by  Benjamin Pierce

Contents i
A Conceptual Approach
Second Edition
Benjamin A. Pierce
Baylor University
W. H. Freeman and Company • New York
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Cover Illustration: Kenneth Eward
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Composition: Seven Worldwide Publishing Solutions
Manufacturing: RR Donnelley & Sons Company
Library ofCongress Cataloging-in-Publication Data Control Number:2004114215
© 2005 by W.H.Freeman and Company. All rights reserved.
ISBN: 0-7167-8881-0 (Text only) (EAN:9780716788812)
ISBN: 0-7167-6836-4 (Text and Solutions Manual CD) (EAN:9780716768364)
Printed in the United States ofAmerica
First printing
W.H.Freeman and Company
41 Madison Avenue
New York,NY 10010
Houndmills,Basingstoke RG21 6XS,England
www.whfreeman.com
To my parents, Rush and Amanda Pierce;
my children, Sarah and Michael Pierce;
and my partner, friend, and soul mate of 24 years, Marlene Tyrrell.
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Contents in Brief
Chapter 1 Introduction to Genetics 1
Chapter 2 Chromosomes and Cellular Reproduction 17
Chapter 3 Basic Principles of Heredity 47
Chapter 4 Sex Determination and Sex-Linked Characteristics 75
Chapter 5 Extensions and Modifications of Basic Principles 101
Chapter 6 Pedigree Analysis and Applications 132
INTEGRATIVE CASE STUDY Phenylketonuria: Part I 156
Chapter 7 Linkage, Recombination, and Eukaryotic Gene Mapping 160
Chapter 8 Bacterial and Viral Genetic Systems 197
Chapter 9 Chromosome Variation 235
Chapter 10 DNA: The Chemical Nature of the Gene 266
Chapter 11 Chromosome Structure and Transposable Elements 287
Chapter 12 DNA Replication and Recombination 318
Chapter 13 Transcription 348
Chapter 14 RNA Molecules and RNA Processing 372
Chapter 15 The Genetic Code and Translation 402
Chapter 16 Control of Gene Expression 433
Chapter 17 Gene Mutations and DNA Repair 473
INTEGRATIVE CASE STUDY Phenylketonuria: Part II 506
Chapter 18 Recombinant DNA Technology 509
Chapter 19 Genomics 552
Chapter 20 Organelle DNA 587
Chapter 21 Advanced Topics in Genetics: Developmental Genetics,
Immunogenetics, and Cancer Genetics 607
Chapter 22 Quantitative Genetics 642
Chapter 23 Population and Evolutionary Genetics 676
INTEGRATIVE CASE STUDY Phenylketonuria: Part III 716
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Contents
Preface xv Chapter 3 Basic Principles
of Heredity 47
Chapter 1 Introduction to Genetics 1
Black Urine and First Cousins 47
Royal Hemophilia and Romanov DNA 1
Mendel: The Father of Genetics 48
The Importance of Genetics 4
Mendel’s Success 49
The Role ofGenetics in Biology 5
Genetic Terminology 49
Genetic Diversity and Evolution 5
Monohybrid Crosses 50
Divisions ofGenetics 6
What Monohybrid Crosses Reveal 51
Model Genetic Organisms 6
Connecting Concepts Relating Genetic Crosses
A Brief History of Genetics 7
to Meiosis 53
Prehistory 8 Predicting the Outcomes ofGenetic Crosses 53
Early Written Records 8 The Testcross 58
The Rise ofGenetics 10 Incomplete Dominance 58
Modern Genetics 11 Genetic Symbols 59
The Future ofGenetics 11 Connecting Concepts Ratios in Simple Crosses 60
Basic Concepts in Genetics 12 Multiple-Loci Crosses 61
The New Genetics ETHICS·SCIENCE·TECHNOLOGY Dihybrid Crosses 61
Choosing the Sex of Your Child by Ron Green 13 The Principle ofIndependent Assortment 61
The Relation ofthe Principle ofIndependent
Chapter 2 Chromosomes and Cellular Assortment to Meiosis 62
Applying Probability and the Branch Diagram to
Reproduction 17
Dihybrid Crosses 62
The Blind Men’s Riddle 17 The Dihybrid Testcross 63
Basic Cell Types: Structure and Evolutionary Observed and Expected Ratios 65
Relationships 18 The Goodness-of-Fit Chi-Square Test 65
Cell Reproduction 21
The New Genetics ETHICS·SCIENCE·TECHNOLOGY
Prokaryotic Cell Reproduction 21 Rest in Peace, Mr. Lincoln?by Arthur L. Caplan and Ron Green 68
Eukaryotic Cell Reproduction 21
Chapter 4 Sex Determination and Sex-
The Cell Cycle and Mitosis 23
Linked Characteristics 75
The Movement ofChromosomes in Mitosis 27
Genetic Consequences ofthe Cell Cycle 27
Sex Wars in Isopods 75
Control ofthe Cell Cycle 28
Sex Determination 77
Connecting Concepts Counting Chromosomes and
Chromosomal Sex-Determining Systems 77
DNA Molecules 29
Genetic Sex-Determining Systems 79
Sexual Reproduction and Genetic Variation 30
Environmental Sex Determination 80
Meiosis 30
Sex Determination in Drosophila melanogaster 80
Consequences ofMeiosis 32
Sex Determination in Humans 81
Connecting Concepts Comparison of Mitosis and
Meiosis 36 Sex-Linked Characteristics 83
Separation ofSister Chromatids and Homologous X-Linked White Eyes in Drosophila 84
Chromosomes 37 Nondisjunction and the Chromosome Theory of
Meiosis in the Life Cycles ofPlants and Animals 38 Inheritance 85
vii
viii Contents
Model Organism:The Fruit Fly Drosophila Twin Studies 141
melanogaster 86
Concordance 141
X-Linked Color Blindness in Humans 88
Twin Studies and Obesity 142
Symbols for X-Linked Genes 89
Adoption Studies 143
Dosage Compensation 90
Adoption Studies and Obesity 144
Z-Linked Characteristics 92
Adoption Studies and Alcoholism 145
Y-Linked Characteristics 92
Connecting Concepts Recognizing Sex-Linked Genetic Counseling 145
Inheritance 94 Genetic Testing 146
Prenatal Genetic Testing 147
Chapter 5 Extensions and Modifications
Postnatal Genetic Testing 149
of Basic Principles 101
The New Genetics ETHICS·SCIENCE·TECHNOLOGY
Birth Weight and Genomic Imprinting 101 Lifesaving Sibling or Designer Baby?by Ron Green 150
Dominance Revisited 102 INTEGRATIVE CASE STUDY Phenylketonuria: Part I 156
Penetrance and Expressivity 104 PKU and Dominance 156
Lethal Alleles 105 Multiple Alleles at the PAHLocus 157
Multiple Alleles 105 PKU As a Multifactorial Trait 157
Duck-Feather Patterns 105 The Treatment ofPKU 157
The ABO Blood Group 106 PKU As a Genetic Maternal Effect 158
Gene Interaction 107 Newborn Screening for PKU 158
Genetic Risk and Genetic Counseling for PKU 159
Gene Interaction That Produces Novel Phenotypes 107
Gene Interaction with Epistasis 108
Chapter 7 Linkage, Recombination, and
Connecting Concepts Interpreting Ratios Produced
by Gene Interaction 111 Eukaryotic Gene Mapping 160
The Complex Genetics ofCoat Color in Dogs 112
Alfred Sturtevant and the First Genetic Map 160
Complementation:Determining Whether Mutations
Are at the Same or Different Loci 115 Genes That Assort Independently and
Those That Don’t 161
Interaction Between Sex and Heredity 115
Linkage and Recombination Between
Sex-Influenced and Sex-Limited Characteristics 115
Two Genes 163
Cytoplasmic Inheritance 117
Notation for Crosses with Linkage 163
Genetic Maternal Effect 119
Complete Linkage Compared with Independent
Genomic Imprinting 120
Assortment 164
Anticipation 122
Crossing Over with Linked Genes 164
Interaction Between Genes and Environment 122
Calculating Recombination Frequency 167
Environmental Effects on Gene Expression 122
Coupling and Repulsion 167
The Inheritance ofContinuous Characteristics 123
Connecting Concepts Relating Independent
Assortment, Linkage, and Crossing Over 169
Chapter 6 Pedigree Analysis and Evidence for the Physical Basis ofRecombination 169
Applications 132 Predicting the Outcome ofCrosses with Linked
Genes 170
Lou Gehrig and Superoxide Free Radicals 132
Testing for Independent Assortment 171
The Study of Human Genetic Characteristics 133 Gene Mapping with Recombination Frequencies 173
Analyzing Pedigrees 134 Constructing a Genetic Map with Two-Point
Autosomal Recessive Traits 135 Testcrosses 174
Autosomal Dominant Traits 136 Linkage and Recombination Between
X-Linked Recessive Traits 137 Three Genes 175
X-Linked Dominant Traits 139 Constructing a Genetic Map with the Three-Point
Y-Linked Traits 139 Testcross 176