Personal Genome Project Study Guide Personal Genome Project Study Guide Personal Genome ... PDF
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Personal 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.
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