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.


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

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

. or its affiliates. so the gene pool is considered to be homogeneous. Fill in the Venn diagram to show how. The population is quite isolated. would stand out.Name 18. Class Date The field of bioinformatics combines both life sciences and modern technology. In fact. Unusual base pairs. Lesson 14. 225 . Medical records are just as detailed. Inc. such as those associated with disorders. 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. All Rights Reserved. The Icelandic people have always placed high importance on knowing about their ancestors. 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. Information nce Life Scie Statistics Sc i e nce Data Analyses Observations Visualizations Experiments Predictions Computer Modeling Databases Hypotheses 19. scientists would be able to test descendants with no signs of the disorder to see just how it is inherited between generations.3 • Workbook A • Copyright © by Pearson Education.

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

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

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

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