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Published in 2011 by Britannica Educational Publishing
(a trademark of Encyclopædia Britannica, Inc.)
in association with Rosen Educational Services, LLC
29 East 21st Street, New York, NY 10010.

Copyright © 2011 Encyclopædia Britannica, Inc. Britannica, Encyclopædia Britannica,

and the Thistle logo are registered trademarks of Encyclopædia Britannica, Inc. All
rights reserved.

Rosen Educational Services materials copyright © 2011 Rosen Educational Services, LLC.
All rights reserved.

Distributed exclusively by Rosen Educational Services.

For a listing of additional Britannica Educational Publishing titles, call toll free (800) 237-9932.

First Edition

Britannica Educational Publishing

Michael I. Levy: Executive Editor
J.E. Luebering: Senior Manager
Marilyn L. Barton: Senior Coordinator, Production Control
Steven Bosco: Director, Editorial Technologies
Lisa S. Braucher: Senior Producer and Data Editor
Yvette Charboneau: Senior Copy Editor
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Kara Rogers: Senior Editor, Biomedical Sciences

Rosen Educational Services

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Nelson Sá: Art Director
Matthew Cauli: Designer, Cover Design
Cindy Reiman: Photography Manager
Introduction by David Nagle

Library of Congress Cataloging-in-Publication Data

New thinking about genetics / edited by Kara Rogers.—1st ed.

p.; cm.—(21st century science)
“In association with Britannica Educational Publishing, Rosen Educational Services.”
Includes bibliographical references and index.
ISBN 978-1-61530-169-0 (eBook)
1. Genetics—Popular works. I. Rogers, Kara. II. Series: 21st century science.
[DNLM: 1. Genetic Phenomena. 2. Philosophy. QU 450 N5325 2010]
QH437.N49 2010
576.5—dc22
2009044215

On the cover: In this composite image, a scientist works on a sample of human genetic material in
front of a backdrop of models of DNA (deoxyribonucleic acid). DNA is an organic chemical that codes
genetic information so that inherited traits can be transmitted to new generations of an organism.
Frederick Florin/AFP/Getty Images (pipette and hand); www.istockphoto.com / Nicolas
Hansen (DNA).

Pp. 5, 21, 38, 57, 85, 123, 158, 190, 220, 262, 266, 268 © www.istockphoto.com/Mark Evans; p. 12
© www.istockphoto.com/Nicolas Hansen; p. 20 © www.istockphoto.com/Mads Abildgaard.
 Contents
Introduction 12

Chapter 1: The Code of Life 21

25
Ancient Theories of Pangenesis and
Blood in Heredity 22
Preformation and Natural
Selection 24
The Work of Gregor Mendel 25
Theoretical Interpretation 27
Rediscovery 28 32
How the Gene Idea Became
Reality 29
Early Molecular Genetics 30
DNA and the Genetic Code 31
Francis Crick 33
James Watson 34
Maurice Wilkins 36

Chapter 2: The Physical Basis of

Heredity 38
Genes 38
Alleles 39
48
Genotype 40
Phenotype 40
Chromosomes 41
Sex Chromosomes 44
Chromosomes During Cell Division:
Mitosis 45
Chromosomes During Cell Division:
Meiosis 46
Linkage Groups 47
Thomas Hunt Morgan 48
Chromosomal Aberrations 52
50
Chapter 3: DNA as the Agent of
Heredity 57
Structure and Composition of DNA 59
DNA Replication 60
Expression of the Genetic Code 64
Transcription 67
Translation 69
Gene Mutation 71
Mechanisms of Mutation 72
Repair of Mutation 75
Regulation of Gene Expression 76
RNA Interference and Gene
Silencing 79
61
Repetitive DNA 81
Barbara McClintock 82

Chapter 4: The Study of

Genetics 85
Classical Genetics 85
Cytogenetics 86
Cytogenetic Techniques 87
Fluorescence In Situ
Hybridization 87
Microbial Genetics 88
82
Molecular Genetics 89

96
Molecular Techniques 90
Polymerase Chain Reaction 90
DNA Fingerprinting 93
Immunogenetics 95
Genomics 95
Sequencing and Bioinformatic
Analysis of Genomes 97
Functional Genomics 98
Gene Identification by Microarray
Genomic Analysis 98
Comparative Genomics 99
Population Genetics 100
Experimental Breeding 101
Mathematical Techniques 102
Hardy-Weinberg Law 102
Genetic Drift 103
Founder Principle 104
Behaviour Genetics 104
Early History of Behaviour
Genetics 104
Methods of Behaviour Genetics
Study 105
Study of Human Genetics 108
Epigenetics 110
107
Stem Cells 112
Embryonic Stem Cells 114
Adult Stem Cells 115 139
Induced Pluripotent Stem Cells 118
RNA Interference 120

Chapter 5: Genetic Engineering 123

Recombinant DNA Technology 125
DNA Cloning 125
Creating the Clone 127
Isolating the Clone 131
DNA Sequencing 132

141
In Vitro Mutagenesis 133
Gene Therapy 135
Reverse Genetics 135
Diagnostics 136
Protein Manufacture 136
Genetically Modified Organisms 137
GMOs in Agriculture 139
GMOs in Medicine and
Research 143
Role of GMOs in Environmental
Management 144
 Sociopolitical Relevance of
GMOs 145
Cloning 146
Early Cloning Experiments 147
Reproductive Cloning 149
Therapeutic Cloning 153
Ethical Controversies of
Cloning 155

Chapter 6: Genetics Applied to Plants

145
and Animals 158
Plant Breeding 158
Goals 160
Evaluation of Plants 161
Methods of Plant Breeding 163
Animal Breeding 174
Breeding and Variation 175
Breeding 178
Selection 181
Breeding Systems 187

Chapter 7: Human Genetics 190

The Human Chromosomes 190
The Human Genome 191
176
Role of the Human Genome in
Research 194
Origins of the Human Genome 195 192
Social Impacts of Human Genome
Research 197
The Genetics of Human Blood 198
Blood Types 199
Serum Proteins 200
Hemoglobin 201
The Genetics of Antibody
Formation 202
The Genetics of Cellular Immunity 204
Influence of the Environment 205
Fraternal Twins 206
Identical Twins 207
Diagnosis of Twin Types 208
Inferences from Twin Studies 208
Genetics and the Concept of Race 212
Modern Scientific Explanations of
Human Biological Variation 212
The Scientific Debate Over
“Race” 217

Chapter 8: Genetic Diseases of 222

Humans 220
Classes of Genetic Disease 221
Diseases Caused by Chromosomal
Aberrations 221
224
Abnormalities of the Sex
Chromosomes 223
Diseases of Autosomal Dominant
Inheritance 226
Diseases of Autosomal Recessive
Inheritance 229
Repeat Expansions 231
Mitochondrial DNA Mutations 232
Imprinted Gene Mutations 232
Diseases Caused by Multifactorial
Inheritance 234
Victor McKusick 235
Genetics of Cancer 235
Telomeres 239
Genetic Damage from Environmental
Agents 240
Management of Genetic Disease 242
Genetic Counseling 243
Calculating Risks of Known 239
Carriers 243
 Estimating Probability: Bayes’s
Theorem 245
Prenatal Diagnosis 248
Genetic Testing 252
Eugenics 255
The Future of Genetics in Medicine 259

Glossary 262
For Further Reading 266
Index 268

246

255
Introduction
INTRODUCTION
 7 Introduction 7

T oday, almost everyone has heard about DNA analysis

from crime shows on television. It’s how the police
catch bad guys. But it can also be a way to find good guys.
Since the 1990s, the remains of U.S. soldiers have been
positively identified through enhanced procedures using
mitochondrial DNA, which provides information about
maternal lineage. In 2008 and 2009, for instance, the
remains of U.S. Vietnam pilots who have been missing in
action since the late 1960s and Operation Desert Storm
pilots who have been missing since 1991 were positively
identified using mitochondrial DNA analysis. The same
process is also being used to identify the remains of more
than 250 British and Australian World War I veterans
discovered in a mass grave outside of Fromelles, France,
and to successfully identify remains from conflicts dating
back to the American Civil War. This book helps to unravel
the mysteries of the science of DNA, chromosomes, and
genes, as well as to bring to the forefront current methods
and theories of genetic inquiry.
Humans have long been aware that various plants and
animals seemed to have similarities in form and function
to the “parents.” Ancient peoples used this understanding
in daily life; for example, mating male and female animals
with superior characteristics to create new generations with
improved physical traits. These early observations under-
lie a process that many centuries later came to be known
as heredity.
Even into the 18th century ideas were somewhat gen-
eral as to the actual process of heredity. Believers in
preformation, the idea that a small, complete “homuncu-
lus” (Latin for “little human”) were battling over whether
the little fellow existed in the sperm or the egg. The the-
ory of epigenesis seemed to make better sense to those
who believed that the egg was just a sack containing no

13
 7 New Thinking About Genetics 7

structures, only a kind of “jelly” that developed through a

series of steps.
Modern understanding of heredity began in the mid-
1860s, with the work of a man whom many call the father
of genetics, an Austrian monk named Gregor Mendel.
Mendel provided the first mathematical foundation of
the science of genetics through his work with garden peas.
He followed a single characteristic or trait of the peas
rather than a more general view, and he used exact
counts rather than estimates. Mendel’s classical experi-
mentation methods are used today for gene discovery and
assembly to affect biological properties of interest.
The components that Mendel believed held basic
heredity data are known today to be genes and chromo-
somes. The role of these components in genetic inheritance
was established in the early part the 20th century. However,
the mystery of DNA (deoxyribonucleic acid), which was
first discovered in 1869 and of which genes and chromo-
somes are composed, was not resolved until later, in
1953, when biochemists Francis Crick, James Watson, and
Maurice Wilkins determined the molecule’s now famous
double-helix shape and inferred the process of genetic
coding within cellular DNA. The trio was eventually
awarded the Nobel Prize for Physiology or Medicine in
1962 for their discovery, which is widely considered one
of the defining moments in genetics and generally in
science.
While Mendel’s classical genetics was a huge step
forward in scientific reasoning, once Watson, Crick,
and Wilkins mapped the structure of DNA, many more
avenues could be explored using much more advanced
techniques and equipment. Beyond the classical genetics
of Mendel, there are several other important areas of
study in the larger field of genetics. They include disci-
plines that involve the isolation and examination of

14
 7 Introduction 7

smaller components, such as in cytogenetics (the micro-

scopic study of chromosomes and genes), microbial
genetics (using simpler bacteria or viruses), and molecular
genetics. In addition, there are fields such as genomics
and population genetics that investigate very broad con-
cepts and rely on various scientific methodologies.
And yet, genetics does not exist strictly in the world of
science. It touches all of human thought and experience
and has sociopolitical, ethical, and moral dimensions as
well. But modern techniques such as genetic engineering
take genetic manipulation to a whole new level. Genetic
engineering, which involves artificially modifying DNA, is
a primary means by which genetics influences human
existence in modern times. For instance, the production
of genetically modified organisms (GMOs) has provided
many benefits to people. Essentially, GMOs are organisms
engineered by genome alteration to reflect what are con-
sidered to be “beneficial” aspects. An example of this is a
certain kind of rice that has been changed so that it con-
tains more iron to aid iron-deficient diets.
On occasion, the promise of genetic engineering has
been offset by possible negative consequences, creating
controversy. While the benefits of GMOs may be seen in
increased food production and in the production of more
nutrient-fortified crops, concerns have arisen about the
safety of these products. The potential to stimulate an
allergic response in some persons, the development of
insecticide-resistant “superbugs,” the increased use of chem-
icals in fields of herbicide-resistant crops, and other worries
have caused tensions in global trade and other areas that
demand a cautious approach when dealing with GMOs.
Cloning, in which an organisms possesses the same
DNA as the unit or individual from which it is derived, is
another controversial area of genetics. While cloning is a
natural process in some biological systems, its development

15
 7 New Thinking About Genetics 7

and use as a tool for genetics and reproductive research

occurred gradually, over the course of decades in the 20th
century. For many years, success in cloning animals was
limited to experiments involving “lower” classes of organ-
isms, such as amphibians, and it was generally thought that
mammalian cloning was beyond the reach of scientists.
However, in the 1990s, the successful cloning of Dolly, a
female sheep, proved otherwise.
Shortly after the breakthrough in mammalian cloning,
another important advance in genetics took place—the
sequencing of the human genome. In recent years, scien-
tists have studied the human genome in order to better
understand what defines humans genetically as a species
and what defines human populations culturally and his-
torically. Experts known from studying twins that many
factors in personality are purely genetic, whereas others
are determined by environmental and cultural factors.
They also known that humans and Neanderthals, a group
of archaic humans, have very similar genomes, with about
99.5 percent similarity in sequence.
The study of genetics also helps experts understand
human migration patterns. They know that humans
migrated out of Africa approximately 60,000 years ago,
moving to Europe, Asia, and eventually the Americas.
Experts have learned that different skin colours and other
physical features, such as different body builds, helped
humans to adapt to different environments over the mil-
lennia. And yet many experts have also come to believe
that the concept of race seems to be outliving its useful-
ness as the extensive intermingling of peoples across the
globe means that people have the races of several conti-
nents in their blood—that all people regardless of their
physical variations are capable of learning any kind of
cultural behavior.

16
 7 Introduction 7

One unfortunate characteristic that humans share is a

vulnerability to genetic-based diseases. Genetic defects
cause a variety of diseases and disorders in children and
adults. In the 20th and 21st centuries, a number of advance-
ments were made in the understanding of various genetic
abnormalities. Some genetic syndromes are caused by
sex-linked chromosomes, whereas other problems are
caused by autosomal (non-sex-linked) chromosomes,
including Huntington disease and PKU (phenylketon-
uria). Some diseases have multifactorial causes, such as
cancers that can be exacerbated by genetic factors.
Scientists estimate that genetic factors cause at least 30
percent of cases of the eye tumour retinoblastoma. Some
breast and colorectal cancers are influenced by genetic
factors as well.
But gene damage doesn’t just come from parents.
Chromosomes can also be damaged by environmental
factors. The decomposition of ozone has led to skin
cancer, X rays and chemicals can cause chromosome
abnormalities or mutations, and certain viruses, such as
HIV (human immunodeficiency virus), Epstein-Barr, and
hepatitis B and C, can cause genetic-level damage that
encourage the growth of cancers.
One of the fastest-growing fields in medicine is genetic
counseling, due to the growth of knowledge in how to
look at and test for various maladies. Scientists can help
potential parents evaluate their chances of passing along a
genetic disease to their child even before they conceive.
Dealing with genes and the human species can be
tricky, however. One controversial area is eugenics.
Although the idea of breeding better, healthier people
started in idealism, eugenics slowly began to become dis-
credited, especially when the Nazis used the idea to support
extermination of entire races. From eugenics to cloning,

17
 7 New Thinking About Genetics 7

there have been ethical considerations in the field of

genetics that in many cases have trumped pure science. In
those areas that are generally agreed to be of social ben-
efit, however, advances in genetics have accelerated
exponentially and look to hold great promise for advance-
ment in medical procedures and pharmacology.
In October 2009, both the Nobel Prize for Chemistry
and the Nobel Prize for Physiology or Medicine were
awarded for gene-based research. Americans Venkatraman
Ramakrishnan and Thomas Steitz and Israeli Ada Yonath
shared the Nobel Prize in Chemistry for mapping out
the position of the thousands of atoms that make up
ribosomes. Ribosomes use information from DNA to
make proteins needed for life. The scientists’ research will
help experts develop new antibiotics. The Nobel Prize for
Physiology or Medicine was given to Americans Elizabeth
H. Blackburn, Carol W. Greider, and Jack W. Szostak for
their work on telomeres, structures on the ends of chro-
mosomes that protect DNA from degrading when it
replicates. This research may help scientists find new ways
to fight cancer. It’s no wonder that many scientists believe
that as the 20th century was the century of physics, the
21st will be the century of biology.

18
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