Table Of ContentPersonal Genome Project Study Guide
Welcome to the Personal Genome Project Study
Guide Website
Here you will find lessons and practice tests to help
you pass the Personal Genome Project (PGP) entrance
exam. The PGP is a project from Harvard Medical
School.
In 2001, the Human Genome Project published a
working draft of the human genome sequence, thus
providing unprecedented advances in our knowledge of
how a human works.
The PGP makes sequencing personal. Just like the
personal computer brought information technology to
individuals, the PGP brings DNA sequencing to
individuals. To enroll in the project, participants must
pass an entrance exam. The Alan and Priscilla
Oppenheimer Foundation developed the Personal
Genome Project Study Guide to help people pass the
exam.
Personal Genome Project Study Guide
The Personal Genome Project (PGP) is a project from
Harvard Medical School that is sequencing key pieces
of the DNA of its volunteers and publishing the results
with extensive information about the volunteers' traits
and medical history.
The data are being made available on the Internet so
that researchers can test hypotheses about the
relationships among genes, traits, and environment.
Harvard hopes to enroll 100,000 participants from the
general public in the project.
To enroll, participants must pass an entrance exam
that tests basic genetics literacy, informed consent
expertise, and knowledge about the rights and
responsibilities of human research subjects.
Personal Genome Project Study Guide
The goal of this study guide is for you to pass the
PGP entrance exam so that you can give truly
informed consent to participate in the PGP.
The entrance exam has six major topics. The study
guide has a part for each of those topics. Click on a
part button to the left to study the topics. Each part
has one or more lessons and practice tests.
It is recommended that you study the parts in order,
but that's not absolutely necessary. If you already
know some of the subjects, for example, you could
skip ahead.
Personal Genome Project Study Guide
Question: Where do I take the actual PGP entrance
exam?
Answer: Information about registering for the actual
exam is available here.
Question: What is the passing score for the entrance
exam?
Answer: As of this writing, the passing score is
100%.
Question: Where can I find more information about
the policies and procedures of the PGP?
Answer: More information is available here.
Question:How many questions does the entrance
exam have?
Answer: About 60
Question: What types of questions are on the
entrance exam?
Answer: Multiple-choice, matching, and true/false.
Most of the multiple-choice questions are the classic
type that you probably remember from school where
you had to select one correct answer out of choices A,
B, C, and D. In some of the multiple-choice questions,
however, you may be asked to select multiple correct
answers.
Question: Why do I have to take an exam to
participate in the PGP?
Answer: The PGP takes informed consent very
seriously and believes that an exam is the best way
to ensure that you have the knowledge necessary to
understand the benefits and risks associated with
participating in the project.
Question: I missed a question on a PGP Study Guide
practice test, but I think I should have gotten it right.
Where can I send feedback regarding the study guide?
Answer: You can send feedback to pgpstudy at
oppenheimerfoundation dot org.
Personal Genome Project Study Guide
For questions about the study guide, or to send feedback
about the study guide, please send email to:
pgpstudy at oppenheimerfoundation dot org
For questions about the PGP, please send email to:
general at personalgenomes dot org
For questions about the Alan and Priscilla Oppenheimer
Foundation, please send email to:
info at oppenheimerfoundation dot org
Personal Genome Project Study Guide
The Personal Genome Project Study Guide was
developed by a set of dedicated professionals on
behalf of the Alan and Priscilla Oppenheimer
Foundation.
The Foundation would like to thank the Personal
Genome Project of Harvard Medical School, and
especially Jason Bobe, for the opportunity to work on
the project. The Foundation would also like to thank
Kathleen Page, Joan O. Weiss, Grace Richter, Linda
Sturgeon, and many others who provided valuable
advice and support.
All writing Copyright (c) 2009 Alan and Priscilla
Oppenheimer Foundation
Personal Genome Project Study Guide
Kathleen Page, Ph.D., is the author of the bulk of the
lessons in the Study Guide. Dr. Page earned her B.A.
in 1978 from the Department of Biochemistry,
University of California, Berkeley; her M.A. in 1981
from the Department of Biological Sciences, University
of California, Santa Barbara; and her Ph.D. in 1988
from the Department of Microbiology and
Immunology, University of California, Los Angeles.
Dr. Page's current research interests involve the
isolation and identification of bacteria associated with
environmentally-damaging acid mine drainage.
Personal Genome Project Study Guide
Joan Oppenheimer Weiss, M.S.W., is the author of the
Genetics and Society lessons.
Ms. Weiss was the founder of the Genetic Alliance and
is co-author of "Starting and Sustaining Genetic
Support Groups", The Johns Hopkins University Press,
1996.
Personal Genome Project Study Guide
Priscilla Oppenheimer is the Executive Editor for the Study
Guide and the author of the Project Literacy lessons.
Ms. Oppenheimer works in the computer networking field as
a consultant and instructor, and is the author and co-
author of five books on computer networking.
Ms. Oppenheimer earned her M.S. in Information Science
in 1980 from the University of Michigan and is intrigued by
DNA because it's information technology for nature.
Personal Genome Project Study Guide
Grace Y. Richter, Ph.D., edited and reviewed the lessons
and practice tests. Dr. Richter earned her B.A. in Biology in
1986 from Reed College and her Ph.D. in Biology in 1995
from Oregon State University. She currently works for Life
Technologies in Eugene, Oregon.
Personal Genome Project Study Guide
Linda Sturgeon was the Website Designer and
Computer Programmer for the Study Guide. Ms.
Sturgeon earned her B.S. in Computer Science in
2007 from Southern Oregon University.
Ms. Sturgeon has over 20 years experience working in
the 3D animation/special effects (games/film),
multimedia, publishing, and advertising industries. She
is the owner of Sturgeon Advertising, located in
Southern Oregon.
Personal Genome Project Study Guide
Part I: Genetic Material
Personal Genome Project Study Guide
Part I: Genetic Material
Lesson 1: Introduction to Cells, DNA, and Genes
Upon completion of this lesson, you will be able to:
Recall that genetic information is stored in DNA
Explain that different cell types have different
functions because different genes are active in
different cells
Recall that DNA resides in every cell's nucleus
Recall that some DNA resides in a cell's
mitochondria
Explain the relationships among DNA, genes,
and chromosomes
Explain, in general terms, that genes play a role
in determining traits and inherited diseases
Personal Genome Project Study Guide
Part I: Genetic Material
Lesson 1: Introduction to Cells, DNA, and Genes
The human body consists of trillions of cells. How do
those cells know what function to carry out for your
body?
Each cell has programs encoded in its DNA. The
programs are sets of genes that become activated in
different cell types (such as muscle cells versus
nerve cells). These programs are permanently
embedded in cells, but their activity can be turned
up or down according to a person's age, lifestyle,
and environment. The programmed information in
genes is so critical that slight changes in genes can
lead to inherited diseases, or make us more inclined
to develop some diseases.
Personal Genome Project Study Guide
Muscle cell
Part I: Genetic Material
Lesson 1: Introduction to Cells, DNA, and
Genes
Different sets of genes are active in different cell
types. Although your muscle cells and nerve cells
contain the same DNA sequences, they activate
different sets of genes to give them different
functions. Each cell type runs different programs.
Muscle cells activate the genes needed to make
muscle fibers. Nerve cells activate the genes
needed to make neurotransmitters and connections
with other nerve cells.
Nerve cell
Personal Genome Project Study Guide
Part I: Genetic Material
Lesson 1: Introduction to Cells, DNA, and Genes
Different sets of genes are active during different
times of a person's life. The human body develops
from the time of fertilization to old age. The changes
that occur in our bodies as we develop are often due
to changes in gene activities that are regulated by our
stage of development. This is known as
developmental gene regulation. Different sets of
genes are turned on and off as we develop and age.
For the most part, the genes themselves remain
constant.
Personal Genome Project Study Guide
Part I: Genetic Material
Lesson 1: Introduction to Cells, DNA, and Genes
Sets of genes encode cellular programs, also called cellular activities. Genes are made of DNA. DNA is the
abbreviation for the chemical deoxyribonucleic acid. DNA is a very long molecule. It looks like two strands
wrapped around each other, resembling a twisted ladder or double helix. DNA is coiled into chromosomes,
found in the nucleus of every cell. There is also a little bit of DNA in another part of cells, organelles called
mitochondria.
Personal Genome Project Study Guide
Part I: Genetic Material
Lesson 1: Introduction to Cells, DNA, and
Genes
Mitochondria are tiny, almost cell-like structures in
the cytoplasm of cells. Mitochondria produce
energy for cell functions. They have a small
amount of DNA in the form of mitochondrial genes.
Only a tiny fraction of human DNA is found in
mitochondria. Mitochondrial DNA is transmitted
only from mother to child, because the child only
inherits its mother's and not its father's
mitochondria. Mutations in the mitochondrial DNA
sequence can be used to determine maternal
lineage.
Personal Genome Project Study Guide
Part I: Genetic Material
Lesson 1: Introduction to Cells, DNA, and
Genes
The vast majority of a cell's DNA is within the
nucleus, a large compartment that contains
chromosomes and enzymes needed for the function
of DNA as a cellular blueprint. In the nucleus, DNA
can be copied into more DNA or copied into RNA, a
molecule that carries DNA's programmed
information outside the nucleus for the purpose of
making the proteins needed for cellular activities.
Each gene is a section of DNA that has the
information needed to make a protein.
Personal Genome Project Study Guide
Part I: Genetic Material
Lesson 1: Introduction to Cells, DNA, and Genes
Genes play a role in human disease. Some diseases
are caused by a mutation (an alteration) in the DNA
sequence of a single gene. In these cases a single
protein is altered, and that is enough to cause
disease. Some diseases are caused by infection or
damaging environments. Many diseases have
complex causes that involve multiple genetic
mutations and/or environmental factors. Muscular
dystrophy is an example of a disease caused by a
mutation in a single gene. Asthma is an example of
a disease with complex causation.
Personal Genome Project Study Guide
Part I: Genetic Material
Lesson 1: Introduction to Cells, DNA, and Genes
Muscular dystrophy, a muscle-wasting disorder, is
caused by mutations in the DMD gene. The DMD
gene codes for a protein called dystrophin that is
necessary for muscle cells to maintain their shape.
When this protein is missing, muscle cells literally
burst as material from outside the cell membrane
leaks in, raising cell pressure. Mutations in the DMD
gene can cause Duchenne muscular dystrophy or its
milder form, Becker muscular dystrophy. People
who are born with muscular dystrophy experience
gradual, severe muscle loss and become unable to Striated muscle
walk by age 10. Sequencing the DMD gene can
reveal who will develop muscular dystrophy.
Personal Genome Project Study Guide
Part I: Genetic Material
Lesson 1: Introduction to Cells, DNA, and Genes
Asthma is caused by a complex set of genes and
environmental factors. Asthma is a chronic lung
disease that causes a person's airways to tighten
and inflame when exposed to different irritants or
triggers.
Asthma is complicated because it is affected by the
environment a person lives in and mutations in at
least five different genes. People with asthma have
different kinds of mutations in these genes. Asthma
runs in families, but because of its complex nature
it is not yet possible to predict who will develop the
disease. DNA sequencing can only reveal who might
be at increased risk, and even then, the risk factor
cannot yet be calculated. This disease is caused by
both genetic and environmental factors.
Personal Genome Project Study Guide
Part I: Genetic Material
Lesson 1: Introduction to Cells, DNA, and Genes
The video and animation from the National Human Genome Research Institute (NHGRI) called "Our Molecular
Selves" is a great introduction to the role our genome plays in shaping who we are. The NHGRI, which is part
of the U.S. National Institutes of Health (NIH), developed the Human Genome Project in collaboration with the
U.S. Department of Energy. The video can be viewed at http://www.genome.gov/25520211.
Personal Genome Project Study Guide
Part I: Genetic Material
Lesson 1: Introduction to Cells, DNA, and Genes
Practice Test
Question 1:
Genes have __________ that act(s) as a
blueprint for the making of __________ .
A. A chromosome/cellular activities
B. DNA codes/protein
C. Cellular activities/chromosomes
D. DNA/chromosomes
Question 2:
The human body has many different cell
types. Nearly all cell types in the same
individual have the same __________ .
A. Proteins
B. Cellular activities
C. Functions
D. DNA sequences
Question 3:
As we grow and mature, our genes
__________ .
A. Disintegrate
B. May increase or decrease their level
of expression or activity
C. Gradually decrease their level of
expression
D. Gradually turn into protein
Question 4:
Mitochondria are
A. The structure that houses the
chromosomes
B. The structure that produces
energy for cells
C. A type of DNA
D. Proteins
Question 5:
Which statement about genes and human
disease is most accurate?
A. Knowing the DNA sequence of all
your genes is sufficient information
to predict the occurrence of
any genetic disease.
B. Genetic diseases are most reliably
predicted by family history rather
than DNA testing.
C. Whereas some genetic diseases
can be predicted based on the
presence of a particular gene
sequence, other genetic diseases
are too complex to be predictable
at this time.
D. Environmental factors have more
influence than gene sequence on
disease occurrence.
