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

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


Name Class Date Manipulating DNA For Questions 1–4. All Rights Reserved. and then replicate DNA. so fragments are separated according to size. Each restriction enzyme cuts DNA at a different sequence of 9. or its affiliates. separate. For Questions 6–10. the electrophoresis. The technique that separates differently sized DNA fragments is gel electrophoresis. 6. After chemically dyed bases have been incorporated into a DNA strand. complete each statement by writing in the correct word or words. Lesson 14. Inc. Complete the graphic organizer to summarize the steps used to determine the sequences of bases in DNA. The smaller the DNA. 3. 223 . Gel electrophoresis then separates them so they can be read. change the underlined word to make the statement true. faster fragments nucleotides . polymerase 4. If the statement is false. Reading DNA Dye-labeled nucleotides and gel electrophoresis Labeled nucleotides stop the synthesis of a new strand at different lengths. Restriction enzymes cut pieces of DNA sometimes called restriction 8. Restriction fragments are always cut at a particular sequence of proteins. write True if the statement is true. 7.3 • Workbook A • Copyright © by Pearson Education. Purpose Tool or Technique Used Outcome Cutting DNA Restriction enzymes Large molecule of DNA is cut into smaller fragments. .. The enzyme that copies DNA is DNA restrictase. and farther it moves during gel 10. scientists can now read the base sequence in DNA from any cell. 5. nucleotides True 2. True 1. the order of colored bands on the gel reveals the exact sequence of bases in DNA. Separating DNA Gel electrophoresis Smaller DNA fragments move faster on the gel. By using tools that cut. Bacteria produce restriction enzymes that cut the DNA molecule into smaller pieces.

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

such as those associated with disorders. All Rights Reserved. 225 . Medical records are just as detailed.. Fill in the Venn diagram to show how. would stand out. The Icelandic people have always placed high importance on knowing about their ancestors. or its affiliates. so the gene pool is considered to be homogeneous. The population is quite isolated. Unusual base pairs. In fact. Lesson 14. Information nce Life Scie Statistics Sc i e nce Data Analyses Observations Visualizations Experiments Predictions Computer Modeling Databases Hypotheses 19. 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. 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. Since people are aware of their family’s medical histories.Name 18. Class Date The field of bioinformatics combines both life sciences and modern technology. Inc.3 • Workbook A • Copyright © by Pearson Education.

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

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

An Individual’s Case The skills used in this activity include information and media literacy. 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. 2. to find the best medicine or dose of a medicine. 5. and solution. Wexler identified the gene that causes Huntington’s disease. emotional. 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. She was spurred on in her research because Huntington’s disease runs in her family.. to begin early treatment. Twenty years ago. What major factor. but are almost evenly split on whether they would undertake genetic testing for an untreatable condition. How many genetic tests are currently available? more than 1000 3. 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. or its affiliates. and problem identification. 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. All Rights Reserved. formulation. she decided that she would rather not know whether she carried the gene because no treatment exists for the disease. as well as scientific. why would someone want to undergo a genetic test? to find out whether a disease can be prevented. communication skills. according to polls. Chapter 14 • Workbook A • Copyright © by Pearson Education. Inc. But when the test finally became available. According to the National Institutes of Health. and ethical factors that affect the testing decision. to make more appropriate decisions 4.Name Class Themes Date Science and Health Literacy 1. which should be supported by logical rationales. Organize into groups to present your findings in a panel discussion about genetic testing. why? Evaluate the students’ performance in the panel discussion based on the reasons why people want to be tested. affects the way people feel about a particular genetic test? People would want to undergo genetic testing for a treatable disease.

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