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.


Reading DNA Dye-labeled nucleotides and gel electrophoresis Labeled nucleotides stop the synthesis of a new strand at different lengths. All Rights Reserved. polymerase 4. The smaller the DNA. 223 . nucleotides True 2. scientists can now read the base sequence in DNA from any cell. Restriction enzymes cut pieces of DNA sometimes called restriction 8. Purpose Tool or Technique Used Outcome Cutting DNA Restriction enzymes Large molecule of DNA is cut into smaller fragments. The technique that separates differently sized DNA fragments is gel electrophoresis. the order of colored bands on the gel reveals the exact sequence of bases in DNA. Lesson 14. Complete the graphic organizer to summarize the steps used to determine the sequences of bases in DNA. 7.Name Class Date Manipulating DNA For Questions 1–4. Bacteria produce restriction enzymes that cut the DNA molecule into smaller pieces. . the electrophoresis. 6. change the underlined word to make the statement true. Gel electrophoresis then separates them so they can be read. The enzyme that copies DNA is DNA restrictase. Each restriction enzyme cuts DNA at a different sequence of 9. and then replicate DNA.. faster fragments nucleotides . write True if the statement is true. complete each statement by writing in the correct word or words. so fragments are separated according to size. or its affiliates. 5. Inc. If the statement is false. For Questions 6–10.3 • Workbook A • Copyright © by Pearson Education. 3. True 1. separate. Restriction fragments are always cut at a particular sequence of proteins. and farther it moves during gel 10. By using tools that cut. After chemically dyed bases have been incorporated into a DNA strand. Separating DNA Gel electrophoresis Smaller DNA fragments move faster on the gel.

cannot be identified from DNA analysis. points where a restriction enzyme cuts a DNA molecule B. genes. D. gel electrophoresis C. single-base differences A. What were the “markers” that the researchers of the Human Genome Project used? A. restriction enzymes B. What technology made the Human Genome Project possible? A. Inc. C.Name Class Date The Human Genome Project For Questions 11–16. C. developing technology for research. or its affiliates. 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. microscopes. cut DNA into millions of “puzzle pieces” D. genomics.. restriction fragments B 13. base sequences D. differences in a base between two individuals C 15. What are SNPs? A. 17. enzyme activation C 12. B. All Rights Reserved. missing sequence of base pairs in a restriction fragment C. write the letter of the correct answer on the line at the left. RNA replication C. exploring gene functions. and training future scientists. seldom occur in normal DNA. studying variation in humans. proteins formed by a mutated gene D. computers. A 11.3 • Workbook A • Copyright © by Pearson Education. DNA sequencing B. Lesson 14. protein synthesis D. find overlapping areas of DNA fragments C. 224 . Other goals included sequencing genomes of model organisms. occur rarely in the sex chromosomes. bind colored dyes to base sequences D 14. separate fragments using gel electrophoresis B. occur at about 3 million sites. A 16. Bioinformatics would not have been possible without A. What does “shotgun sequencing” do? A. D. B.

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

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

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

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

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