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14.3 Studying the Human Genome
Lesson Objectives
Summarize the methods of DNA analysis.
State the goals of the Human Genome Project and explain what we have learned so far.

Lesson Summary
Manipulating DNA Since the 1970s, techniques have been developed that allow scientists
to cut, separate, and replicate DNA base-by-base. Using these tools, scientists can read the
base sequences in DNA from any cell.
▶ Restriction enzymes cut DNA into smaller pieces, called restriction fragments, which are
several hundred bases in length. Each restriction enzyme cuts DNA at a different sequence
of bases.
▶ Gel electrophoresis separates different-sized DNA fragments by placing them at one end
of a porous gel, then applying an electrical voltage. The electrical charge moves the DNA.
▶ Using dye-labeled nucleotides, scientists can stop replication at any point along a single
DNA strand. The fragments can then be separated by size using gel electrophoresis and
“read,” base-by-base.
The Human Genome Project was a 13-year international effort to sequence all 3 billion
base pairs in human DNA and identify all human genes. The project was completed in 2003.
▶ The researchers identified markers in widely separated strands of DNA.
▶ They used “shotgun sequencing,” which uses a computer to match DNA base sequences.
▶ To identify genes, they found promoters, exons, and other sites on the DNA molecule.
▶ To locate and identify as many haplotypes (collections of linked single-base differences) in
the human population as possible, the International HapMap Project began in 2002.
▶ The Human Genome Project identified genes associated with many diseases and
disorders. From the project came the new science of bioinformatics, the creation and
use of databases and other computing tools to manage data. Bioinformatics launched
genomics, the study of whole genomes.
▶ The human genome project pinpointed genes and associated particular sequences in those
genes with numerous diseases and disorders. It also found that the DNA of all humans
matches base-for-base at most sites, but can vary at 3 million sites.
▶ The 1000 Genomes Project, launched in 2008, will catalogue the variation among 1000
people.

Lesson 14.3 • Workbook A • Copyright © by Pearson Education, Inc., or its affiliates. All Rights Reserved.

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Separating DNA Gel electrophoresis Smaller DNA fragments move faster on the gel. The enzyme that copies DNA is DNA restrictase. Purpose Tool or Technique Used Outcome Cutting DNA Restriction enzymes Large molecule of DNA is cut into smaller fragments. For Questions 6–10. Complete the graphic organizer to summarize the steps used to determine the sequences of bases in DNA. If the statement is false. the order of colored bands on the gel reveals the exact sequence of bases in DNA. The technique that separates differently sized DNA fragments is gel electrophoresis. complete each statement by writing in the correct word or words. nucleotides True 2. Reading DNA Dye-labeled nucleotides and gel electrophoresis Labeled nucleotides stop the synthesis of a new strand at different lengths. The smaller the DNA.Name Class Date Manipulating DNA For Questions 1–4. 223 . change the underlined word to make the statement true. All Rights Reserved. Each restriction enzyme cuts DNA at a different sequence of 9. Lesson 14. or its affiliates. Restriction enzymes cut pieces of DNA sometimes called restriction 8. After chemically dyed bases have been incorporated into a DNA strand. polymerase 4. True 1. 5. Inc. and then replicate DNA. 3. so fragments are separated according to size. Bacteria produce restriction enzymes that cut the DNA molecule into smaller pieces. By using tools that cut.3 • Workbook A • Copyright © by Pearson Education. 7. and farther it moves during gel 10. Restriction fragments are always cut at a particular sequence of proteins. write True if the statement is true. separate. Gel electrophoresis then separates them so they can be read. the electrophoresis. . 6. faster fragments nucleotides .. scientists can now read the base sequence in DNA from any cell.

studying variation in humans. proteins formed by a mutated gene D. exploring gene functions. microscopes. gel electrophoresis C. RNA replication C. What does “shotgun sequencing” do? A. Lesson 14. restriction fragments B 13. seldom occur in normal DNA. separate fragments using gel electrophoresis B. genes. restriction enzymes B.3 • Workbook A • Copyright © by Pearson Education. points where a restriction enzyme cuts a DNA molecule B. B. What were the goals of the Human Genome Project? The main goals were to sequence the base pairs of DNA and identify all human genes. find overlapping areas of DNA fragments C. enzyme activation C 12. or its affiliates. developing technology for research. What are SNPs? A. B. 224 .. What technology made the Human Genome Project possible? A. 17. C. In humans. occur rarely in the sex chromosomes. C. D. D. single-base differences A. occur at about 3 million sites. write the letter of the correct answer on the line at the left.Name Class Date The Human Genome Project For Questions 11–16. Inc. base sequences D. What were the “markers” that the researchers of the Human Genome Project used? A. missing sequence of base pairs in a restriction fragment C. protein synthesis D. and training future scientists. differences in a base between two individuals C 15. Bioinformatics would not have been possible without A. DNA sequencing B. A 11. A 16. All Rights Reserved. cut DNA into millions of “puzzle pieces” D. bind colored dyes to base sequences D 14. genomics. Other goals included sequencing genomes of model organisms. computers. cannot be identified from DNA analysis.

scientists would be able to test descendants with no signs of the disorder to see just how it is inherited between generations. 80% of all the Icelandic people who have ever lived can be added to a family tree. All Rights Reserved. Unusual base pairs.Name 18. so the gene pool is considered to be homogeneous. would stand out. or its affiliates. Fill in the Venn diagram to show how. Information nce Life Scie Statistics Sc i e nce Data Analyses Observations Visualizations Experiments Predictions Computer Modeling Databases Hypotheses 19. Lesson 14. The population is quite isolated. Class Date The field of bioinformatics combines both life sciences and modern technology. 225 .. Why would these conditions make the genome of the Icelandic population ideal for studying rare inherited disorders associated with gene sequencing errors? The homogeneous population makes the task of finding DNA sequences easier. In fact. The Icelandic people have always placed high importance on knowing about their ancestors. Medical records are just as detailed.3 • Workbook A • Copyright © by Pearson Education. Since people are aware of their family’s medical histories. such as those associated with disorders. Inc.

Chapter 14 • Workbook A • Copyright © by Pearson Education. A technology used to separate fragments of DNA 5. The cause of Down syndrome is nondisjunction during meiosis. The X chromosome or the Y chromosome 2. nondisjunction H. An inherited disorder that appears more often in males than females is probably caused by a sex-linked gene . genomics 8.. A field of study that includes the operation of databases 7. Humans have 3 billion base pairs in their genome . sex-linked gene F. The study of whole genomes.Name Class Date Chapter Vocabulary Review For Questions 1–11. 226 . A chart that shows family relationships and inheritance of traits 6. restriction enzyme I. pedigree G. 13. The failure of homologous chromosomes to separate during meiosis 4. All Rights Reserved. The protein that cuts DNA into pieces is a restriction enzyme . A picture that shows chromosomes arranged in pairs 10. The full set of genetic information in an organism’s DNA For Questions 12–19. 19. or its affiliates. Any chromosome that is not a sex chromosome 11. 15. autosome E. complete each statement by writing in the correct word or words. An enzyme that cuts a DNA molecule into small pieces Term A. including genes and their functions 9. 12. 17. 14. A gene on the X chromosome or the Y chromosome 3. The new field of bioinformatics resulted from the Human Genome Project. 18. gel electrophoresis J. karyotype C. 16. Humans have 22 pairs of autosomes . bioinformatics K. The 23 pairs of human chromosomes are arranged from largest to smallest in a karyotype . genome B. A circle represents a female in a(n) pedigree . Inc. match the term with its definition. sex chromosome D. Definition C E G I F J H K B D A 1.

The choice is especially difficult for those conditions. for which there are no treatments or cures. and ethical factors that affect their decision whether or not to test. or insurance coverage. (Pharmacogenetic testing involves the analysis of a person’s genetic makeup in order to prescribe the most effective medications for that person. more than 1000 genetic tests are available to determine whether patients carry genes associated with diseases from breast cancer to the degenerative neurological disorder known as Huntington’s disease. To help make such decisions. however. there is no treatment or cure available. Some people simply do not want to know that they will develop a serious illness for which there is no treatment or cure. Others. emotional. it is important to know whether a disease can be prevented if a gene alteration causing a disease is found. Recent polls have found that a significant majority of people say they would want to undergo genetic testing for a treatable disease. Inc. Many people are concerned that testing positive for an untreatable genetic disease could lead to employment discrimination. But the difficult decision is still up to the individual or family. 227 . Pharmacogenetic testing can find the best medicine or dose of a medicine for a certain person.) Continued on next page ▶ Chapter 14 • Workbook A • Copyright © by Pearson Education. You may want to evaluate whether this exercise is appropriate for your students before assigning it. The National Institutes of Health has issued the following information to help people make their decisions. Geneticists have made great strides in recent years to develop many more DNA-based genetic tests.. denial of medical insurance. for example. those who have inherited forms of breast or colon cancer have options such as screening or early treatment. people can seek advice from a genetic counselor. For many. THE CROOKED CELL Learning NOTE: This topic may be difficult for students who are dealing with or have family members dealing with hereditary diseases. or its affiliates. All Rights Reserved. There are no preventive steps or cures for Huntington’s disease. such as Huntington’s disease. or other types of discrimination. you learned how genetic testing can help identify risk for an inheritable disease. How Do I Decide Whether to Be Tested? But in some cases. family planning. But the genetic tests pose a difficult dilemma for many people at risk for genetic disease.Name Class Date In the Chapter Mystery. Genetic Testing: A Personal Choice Today. Genetic counselors help individuals and families think about the scientific. For example. feel that knowing the test results might help them make decisions such as career choices. But respondents remain almost evenly split on whether they would undertake testing for an untreatable condition. People have many different reasons for being tested or not being tested. such as sickle-cell anemia.

communication skills. to make more appropriate decisions 4. All Rights Reserved. What major factor. and problem identification. How many genetic tests are currently available? more than 1000 3. Chapter 14 • Workbook A • Copyright © by Pearson Education. According to the National Institutes of Health. But when the test finally became available. Here are some questions you might consider: ▶ What are the arguments that someone should consider about the decision to undergo genetic testing? ▶ Should a genetic test even be offered for an untreatable condition like Huntington’s? If so. emotional. formulation. Twenty years ago. 2.Name Class Themes Date Science and Health Literacy 1. according to polls. affects the way people feel about a particular genetic test? People would want to undergo genetic testing for a treatable disease. Inc. An Individual’s Case The skills used in this activity include information and media literacy. why? Evaluate the students’ performance in the panel discussion based on the reasons why people want to be tested. 228 . What is a genetic test? A genetic test examines a patient’s DNA to determine whether that patient carries a gene associated with a given disease. or its affiliates. but are almost evenly split on whether they would undertake genetic testing for an untreatable condition. and solution. which should be supported by logical rationales. she decided that she would rather not know whether she carried the gene because no treatment exists for the disease. Wexler spent much of her career working to develop a genetic test for Huntington’s disease. Use Internet or library resources to research the case of neuropsychologist Nancy Wexler.. Wexler identified the gene that causes Huntington’s disease. She was spurred on in her research because Huntington’s disease runs in her family. Do you think anti-discrimination laws should be put in place to protect people who test positive for an untreatable condition like Huntington’s disease? Why or why not? Students may express different viewpoints. and ethical factors that affect the testing decision. Organize into groups to present your findings in a panel discussion about genetic testing. to begin early treatment. as well as scientific. 5. to find the best medicine or dose of a medicine. why would someone want to undergo a genetic test? to find out whether a disease can be prevented.

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