Genetics: Principles and Analysis

1367 Pages·1998·65.66 MB·English

by  Daniel L. Hartl

Page i
Genetics:
Principles and Analysis
Fourth Edition
Daniel L. Hartl
Harvard University
Elizabeth W. Jones
Carnegie Mellon University
Page ii
TO THE BEST TEACHERS WE EVER HAD—OUR PARENTS AND OUR STUDENTS
ABOUT THE AUTHORS
Daniel L. Hartlis a Professor of Biology at Harvard University. He received his B.S. degree and
Ph.D. from the University of Wisconsin. His research interests include molecular genetics,
molecular evolution, and population genetics. Elizabeth W. Jones is a Professor of Biological
Sciences at Carnegie Mellon University. She received her B.S. degree and Ph.D. from the
University of Washington in Seattle. Her research interests include gene regulation and the genetic
control of cellular form. Currently she is studying the function and assembly of organelles in the
yeast Saccharomyces.
ABOUT THE COVER
A human chromosome.
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Library of Congress Cataloging-in-Publication Data
Hartl, Daniel L.
Genetics: Principles and analysis / Daniel L. Hartl, Elizabeth W. Jones.—4th ed.
p. cm.
Includes bibliographical references (p.).
ISBN 0-7637-0489-X
1. Genetics. I. Jones, Elizabeth W. II. Title.
QH430.H3733 1998
576.5—dc21 97-40566
CIP
COPYRIGHT 1998 BY JONES AND BARTLETT PUBLISHERS, INC.
All rights reserved. No part of the material protected by this copyright notice may be reproduced or
utilized in any form, electronic or mechanical, including photocopying, recording, or by any
information storage and retrieval system, without written permission from the copyright owner.
Printed in the United States
03 02 01 00 99 98 9 8 7 6 5 4 3 2
Page iii
Brief Contents
Chapter 1 1
The Molecular Basis of Heredity and Variation
Chapter 2 30
Principles of Genetic Transmission
Chapter 3 80
Genes and Chromosomes
Chapter 4 122
Genetic Linkage and Chromosome Mapping
Chapter 5 172
The Molecular Structure and Replication of the Genetic Material
Chapter 6 220
The Molecular Organization of Chromosomes
Chapter 7 258
Variation in Chromosome Number and Structure
Chapter 8 306
The Genetics of Bacteria and Viruses
Chapter 9 358
Genetic Engineering and Genome Analysis
Chapter 10 410
Gene Expression
Chapter 11 458
Regulation of Gene Activity
Chapter 12 510
The Genetic Control of Development
Chapter 13 554
Mutation, DNA Repair, and Recombination
Chapter 14 598
Extranuclear Inheritance
Chapter 15 626
Population Genetics and Evolution
Chapter 16 668
Quantitative Genetics and Multifactorial Inheritance
Chapter 17 702
Genetics of Biorhythms and Behavior
Page iv
Contents
Preface xv
Introduction: For the Student xxi
Chapter 1 1
The Molecular Basis of Heredity and Variation
1-1 DNA: The Genetic Material 2
Experimental Proof of the Genetic Function of DNA 3
Genetic Role of DNA in Bacteriophage 6
1-2 DNA Structure: The Double Helix 9
1-3 An Overview of DNA Replication 10
1-4 Genes and Proteins 12
Transcription of DNA Makes RNA 12
Translation of RNA Makes Protein 14
1-5 Mutation 15
1-6 How Genes Determine Traits 16
Pleiotropy: One Gene Can Affect More Than One Trait 17
Epistasis: One Trait Can Be Affected by More Than One Gene 19
Effects of the Environment 20
1-7 Evolution 22
The Molecular Continuity of Life 22
Adaptation and Diversity 23
The Role of Chance in Evolution 24
Chapter End Material
Chapter Summary 24
Key Terms 25
Review the Basics 26
Guide to Problem Solving 26
Analysis and Applications 28
Further Reading 29
Special Features
Connection: It's the DNA! 4
Oswald T. Avery, Colin M. MacLeod,
and Maclyn McCarty 1944
Studies on the chemical nature of the substance inducing
transformation of pneumococcal types
Connection: Shear Madness 8
Alfred D. Hershey and Martha Chase 1952
Independent functions of viral protein and nucleic acid in
growth of bacteriophage
GeNETics on the Web 27
Chapter 2 30
Principles of Genetic Transmission
2-1 The Monohybrid Crosses 32
Traits Present in the Progeny of the Hybrids 35
Mendel's Genetic Hypothesis and Its Experimental Tests 36
The Principle of Segregation 40
Important Genetic Terminology 40
Verification of Mendelian Segregation by the Testcross 41
2-2 Segregation of Two or More Genes 42
The Principle of Independent Assortment 42
Dihybrid Testcrosses 45
The Big Experiment 45
2-3 Mendelian Inheritance and Probability 48
Mutually Exclusive Events: The Addition Rule 48
Independent Events: The Multiplication Rule 49
2-4 Segregation in Human Pedigrees 51
2-5 Genetic Analysis 54
The Complementation Test in Gene Identification 54
Why Does the Complementation Test Work? 58
Multiple Alleles 60
2-6 Modified Dihybrid Ratios Caused by Epistasis 61
2-7 Complications in the Concept of Dominance 64
Amorphs, Hypomorphs, and Other Types of Mutations 66
Incomplete Dominance 67
Codominance and the Human ABO Blood Groups 68
Incomplete Penetrance and Variable Expressivity 70
Chapter End Material
Chapter Summary 72
Key Terms 73
Review the Basics 73
Guide to Problem Solving 73
Analysis and Applications 76
Challenge Problems 78
Further Reading 79
Special Features
Connection: What Did Gregor Mendel Think He Discovered 38
Gregor Mendel 1866
Experiments on plant hybrids
Connection: This Land Is Your Land, This Land Is My Land 53
The Huntington's Disease Collaborative Research Group 1993
A novel gene containing a trinucleotide repeat that is expanded
and unstable on Huntington's disease chromosome
GeNETics on the Web 74