Human Genetic Variation
developed under a contract from the
National Institutes of Health
U.S. Department of Health and Human Services
National Institutes of Health
National Human Genome Research Institute
Center for Curriculum Development
5415 Mark Dabling Boulevard
Colorado Springs, CO 80918
BSCS Development Team
Videodiscovery, Inc. Administrative Staff
Joseph D. McInerney, Co-Principal Investigator
D. Joseph Clark, President
Lynda B. Micikas, Co-Project Director
Shaun Taylor, Vice President for Product Development
April L. Gardner, Visiting Scholar
National Institutes of Health
Diane Gionfriddo, Research Assistant
Bruce Fuchs, Office of Science Education (OSE)
Joy L. Hainley, Research Assistant
Karina Boehm, National Human Genome Research
Judy L. Rasmussen, Senior Executive Assistant
Institute (NHGRI)
Barbara C. Resch, Editor
Vence Bonham, NHGRI
Janie Mefford Shaklee, Evaluator
Larry Brody, NHGRI
Lydia E. Walsh, Research Assistant
Lisa Brooks, NHGRI
Anne Westbrook, Science Educator
Carla Easter, NIGRI
Videodiscovery, Inc. Development Team
Barbara Fuller, NHGRI
D. Joseph Clark, Co-Principal Investigator
Kathy Hudson, NHGRI
Shaun Taylor, Co-Project Director
Cynthia Allen, OSE
Michael Bade, Multimedia Producer
William Mowczko, OSE
Dave Christiansen, Animator
Gloria Seelman, OSE
Greg Humes, Assistant Multimedia Producer
Lisa Strauss, OSE
Lucy Flynn Zucotti, Photo Researcher
David Vannier, OSE
Advisory Committee
Field-Test Teachers
Ken Andrews, Colorado College, Colorado Springs, Colorado
Todd Bennethum, Thunder Ridge High School,
Kenneth Bingman, Shawnee Mission West High School,
Highlands Ranch, Colorado
Shawnee Mission, Kansas
Brenda Chenier, Eastern High School, Washington, DC
Julian Davies, University of British Columbia, Vancouver,
Birgit Musheno, Desert Vista High School, Phoenix, Arizona
BC, Canada
Sandra Sundlof, Wheaton High School, Wheaton, Maryland
Lynn B. Jorde, Eccles Institute of Human Genetics,
Patricia Zeck, Northwestern High School, Kokomo, Indiana
Salt Lake City, Utah
Photo Credits
Elmer Kellmann, Parkway Central High School,
Figure 1: Corel Corporation; Figure 3: Jean Claude Revy/
Chesterfield, Missouri
Phototake NYC
Mark A. Rothstein, University of Houston Law Center,
Houston, Texas
This material is based on work supported by the National
Carl W. Pierce, Consultant, Hermann, Missouri
Institutes of Health under Contract No. 263-97-C-0073.
Kelly A. Weiler, Garfield Heights High School, Garfield
Any opinions, findings, conclusions, or recommendations
Heights, Ohio
expressed in this publication are those of the authors and
Raymond L. White, Huntsman Cancer Institute, Salt Lake
do not necessarily reflect the views of the funding agency.
City, Utah
Aimee L. Wonderlick, Northwestern University Medical
Third printing, 2011. Copyright © 1999 by BSCS and
School, Chicago, Illinois
Videodiscovery, Inc. All rights reserved. You have the
permission of BSCS and Videodiscovery, Inc. to reproduce
Writing Team
items in this module (including the software) for your
Mary Ann Cutter, University of Colorado—Colorado Springs
classroom use. The copyright on this module, however,
Edward Drexler, Pius XI High School, Milwaukee, Wisconsin
does not cover reproduction of these items for any other
Robert Fineman, Washington State Department of Health,
use. For permissions and other rights under this copyright,
Seattle, Washington
please contact BSCS, 5415 Mark Dabling Blvd., Colorado
Jenny Sigstedt, Consultant, Steamboat Springs, Colorado
Springs, CO 80918-3842.
Design and Layout
Revised September 2011
Angela Barnes, Finer Points Productions
NIH Publication No. 11-4647
Kyle McKibbon, Graphic Prints, Inc.
Please contact the NIH Office of Science
BSCS Administrative Staff
Education with questions about this supplement
Timothy H. Goldsmith, Chairman, Board of Directors
at supplements@science.education.nih.gov.
Joseph D. McInerney, Director
Michael J. Dougherty, Associate Director
Contents
Foreword . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . v About the National Institutes of Health . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . vi About the National Human Genome Research Institute . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . vii About Biological Sciences Curriculum Study . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . viii Introduction to Human Genetic Variation . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1
Implementing the Module . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3
What Are the Goals of the Module? . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .3
What Are the Science Concepts and How Are They Organized? . . . . . . . . . . . . . . . . . . . . . . . . . . . . .3
How Does the Module Correlate with the National Science Education Standards? . . . . . . . . . . . . . . . .4
How Does the BSCS 5E Instructional Model Promote Active, Collaborative, Inquiry-Based Learning? 4
The BSCS 5E Instructional Model . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .7
Engage . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 10
Explore . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 10
Explain . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 10
Elaborate . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 10
Evaluate . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 10
What’s the Evidence for the Effectiveness of the BSCS 5E Instructional Model? . . . . . . . . . . . . . . . .11
How Does the Module Support Ongoing Assessment? . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .12
How Can Controversial Topics Be Handled in the Classroom? . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .12
Using the Student Lessons . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 15
Format of the Lessons . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .15
Timeline for Teaching the Module . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .16
Using the Web Site . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 17
Hardware and Software Requirements . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .17
Getting the Most out of the Web Site . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .17
Collaborative Groups . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .17
Web Activities for People with Disabilities . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .18
Understanding Human Genetic Variation . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 19
How Do Scientists Study Human Genetic Variation? . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .20
How Much Genetic Variation Exists among Humans? . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .21
What Is the Significance of Human Genetic Variation? . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .22
How Is Our Understanding of Human Genetic Variation Affecting Medicine? . . . . . . . . . . . . . . . . . .23
Genetics, Ethics, and Society . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .27
iii
References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 31
Additional Resources for Teachers . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 33
Glossary . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 39
Student Lessons
Lesson 1— Alike, But Not the Same . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .63
Lesson 2— The Meaning of Genetic Variation . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .71
Lesson 3— Molecular Medicine Comes of Age . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .87
Lesson 4— Are You Susceptible? . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .97
Lesson 5— Making Decisions in the Face of Uncertainty . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .107
Masters . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 119
iv
Foreword
This curriculum supplement, from the NIH
develop problem-solving strategies and critical-
Curriculum Supplement Series, brings cutting-edge
thinking skills.
medical science and basic research discoveries
from the laboratories of the National Institutes
Each of our curriculum supplements comes with a
of Health (NIH) into classrooms. As the largest
complete set of materials for teachers, including
medical research institution in the United States,
extensive background and resource information,
NIH plays a vital role in the health of all Americans
detailed lesson plans, masters for student worksheets,
and seeks to foster interest in research, science,
and a Web site with videos, interactive activities,
and medicine-related careers for future generations.
updates, and corrections (as needed). The
NIH’s Office of Science Education is dedicated to
supplements are distributed at no cost to educators
promoting scientific literacy and the knowledge and
across the United States upon request. They may
skills we need to secure a healthy future for all.
be copied for classroom use but may not be sold.
We designed this curriculum supplement to
We welcome your comments. For a complete
complement existing life science curricula at
list of curriculum supplements and ordering
both the state and local levels and to be consistent
information, or to submit feedback, please visit
with the National Science Education Standards.1 It
http://science.education.nih.gov or write to
was developed and tested by a team of teachers,
scientists, medical experts, and other professionals
Curriculum Supplement Series
with relevant subject-area expertise from institutes
Office of Science Education
and medical schools across the country,
National Institutes of Health
representatives from the National Human Genome
6100 Executive Boulevard, Suite 3E01
Research Institute, and curriculum design experts
Bethesda, MD 20892-7520
from Biological Sciences Curriculum Study (BSCS)
and Videodiscovery, Inc. The authors incorporated
We appreciate the valuable contributions of
real scientific data and actual case studies into
the talented staff at BSCS and Videodiscovery,
classroom activities. A three-year development
Inc. We are also grateful to the NIH scientists,
process included geographically dispersed field
advisors, and all other participating professionals
tests by teachers and students. For the 2011
for their work and dedication. Finally, we thank
(third) printing, key sections of the supplement
the teachers and students who participated in
were updated, but the Student Lessons remain
focus groups and field tests to ensure that these
basically the same.
materials are both engaging and effective.
The curriculum supplements enable teachers
I hope you find our series a valuable addition
to facilitate learning and stimulate student
to your classroom and wish you a productive
interest by applying scientific concepts to
school year.
real-life scenarios. Design elements include a
conceptual flow of lessons based on the BSCS
Bruce A. Fuchs, Ph.D.
5E Instructional Model (page 3), cutting-edge
Director
science content, and built-in assessment tools.
Office of Science Education
Activities promote active and collaborative
National Institutes of Health
learning and are inquiry-based to help students
supplements@science.education.nih.gov
________________________
1 The National Academy of Sciences released the National Science Education Standards in 1996, outlining what all citizens should understand about science by the time they graduate from high school. The Standards encourages teachers to select major science concepts or themes that empower students to use information to solve problems rather than stressing memorization of unrelated information.
v
About the National Institutes of Health
Founded in 1887, NIH is the federal focal point
and clinical investigators, as well as the myriad
for health research in the United States. Today,
professionals in the many allied disciplines who
NIH is one of the agencies within the Department
support the research enterprise. These efforts
of Health and Human Services. Its mission is
also help educate people about scientific results
science in pursuit of fundamental knowledge
so that they can make informed decisions about
about the nature and behavior of living systems
their own—and the public’s—health.
and the application of that knowledge to extend
healthy life and reduce the burdens of illness
This curriculum supplement is one such education
and disability. NIH works toward meeting the
effort. It is a collaboration among the National
mission by providing leadership, direction, and
Human Genome Research Institute, the NIH
grant support to programs designed to improve
Office of Science Education, Biological Sciences
the health of the nation through research.
Curriculum Study, and Videodiscovery, Inc.
NIH’s education programs contribute to ensuring
For more about NIH, visit http://www.nih.gov.
the continued supply of well-trained basic research
vi
About the National Human Genome
Research Institute
The National Human Genome Research Institute
should be able to determine his or her risk
(NHGRI) is leading the international effort to
for disease through genetic tests. If the tests
identify and characterize the estimated 20,000
indicate increased susceptibility to a disease, the
to 25,000 genes that orchestrate a single cell’s
individual will be able to obtain counseling on
development into a human infant and then into
how to reduce that risk—perhaps by periodic
an adult, and that govern whether that individual
medical check-ups, a special diet and other
will be susceptible to diseases such as muscular
lifestyle changes, as well as drugs tailored to
dystrophy, cancer, Alzheimer disease, high blood
his or her genetic profile. Treatment of disease
pressure, and obesity.
will also likely include gene therapies to replace,
compensate for, or repair the genes that play a
Part of the National Institutes of Health, the
role in the disease.
Federal government’s biomedical research arm,
NHGRI set the year 2005 as its deadline for
In addition to genetics research, NHGRI sponsors
completing the DNA sequence of the human
research exploring the potential ethical, legal,
genome, our genetic blueprint. On April 14 of
and social consequences of the anticipated
2003, NHGRI, the Department of Energy,
genetics revolution in medicine. By focusing now
and their partners around the world announced
on preventing the potential misuses of genetic
the successful completion of the Human
information in insurance and employment,
Genome Project.
NHGRI is helping ensure that genetic information
will be used as it was intended: to promote
Completing the sequence of the human genome
human health and save lives.
and deciphering its functions are the first step
toward “molecular medicine,” the revolutionary
For more information about the National Human
approach to diagnosis and treatment that will
Genome Research Institute, visit its Web site at
create targeted, individualized health care
http://www.genome.gov.
in the early 21st century. Then, each person
vii
About Biological Sciences Curriculum Study
Headquartered in Colorado Springs, Colorado,
The BSCS mission is to transform science
BSCS was founded in 1958 as a curriculum study
teaching and learning through research
committed to an evidence- and inquiry-based
and development that strengthens learning
approach to science education. BSCS instructional
environments and inspires a global community
materials and professional development services
of scientifically literate citizens. BSCS is a
are based on current research about teaching and
501(c)(3) nonprofit organization.
learning for all science classrooms, kindergarten
through college.
For more information, please visit
http://www.bscs.org.
BSCS’s materials are extensively field-tested in
diverse settings across the country and evaluated
for proven effectiveness. The BSCS 5E Instructional
Model and inquiry are hallmarks of its materials,
placing students at the center of their learning.
viii
