Ch 14.3 Studying the Human Genome | Human Genome | Dna




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.


Complete the graphic organizer to summarize the steps used to determine the sequences of bases in DNA. 5. scientists can now read the base sequence in DNA from any cell. The technique that separates differently sized DNA fragments is gel electrophoresis. and farther it moves during gel 10. complete each statement by writing in the correct word or words. The enzyme that copies DNA is DNA restrictase.. or its affiliates. . True 1. 6. If the statement is false. Separating DNA Gel electrophoresis Smaller DNA fragments move faster on the gel. the order of colored bands on the gel reveals the exact sequence of bases in DNA. Reading DNA Dye-labeled nucleotides and gel electrophoresis Labeled nucleotides stop the synthesis of a new strand at different lengths. Bacteria produce restriction enzymes that cut the DNA molecule into smaller pieces. Restriction enzymes cut pieces of DNA sometimes called restriction 8. 7. change the underlined word to make the statement true. nucleotides True 2. 223 . Each restriction enzyme cuts DNA at a different sequence of 9.3 • Workbook A • Copyright © by Pearson Education. Restriction fragments are always cut at a particular sequence of proteins. polymerase 4. Gel electrophoresis then separates them so they can be read. so fragments are separated according to size. Purpose Tool or Technique Used Outcome Cutting DNA Restriction enzymes Large molecule of DNA is cut into smaller fragments. 3. the electrophoresis. write True if the statement is true. After chemically dyed bases have been incorporated into a DNA strand. By using tools that cut. and then replicate DNA.Name Class Date Manipulating DNA For Questions 1–4. All Rights Reserved. For Questions 6–10. Inc. The smaller the DNA. faster fragments nucleotides . separate. Lesson 14.

and training future scientists. cut DNA into millions of “puzzle pieces” D. 17. D. protein synthesis D. C. genomics.Name Class Date The Human Genome Project For Questions 11–16. D. 224 . proteins formed by a mutated gene D. computers. occur at about 3 million sites. microscopes. DNA sequencing B. What were the “markers” that the researchers of the Human Genome Project used? A. 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. base sequences D. missing sequence of base pairs in a restriction fragment C. single-base differences A. A 16. In humans. Other goals included sequencing genomes of model organisms. B. studying variation in humans. developing technology for research. separate fragments using gel electrophoresis B. find overlapping areas of DNA fragments C. What technology made the Human Genome Project possible? A. write the letter of the correct answer on the line at the left. Lesson 14. A 11. Bioinformatics would not have been possible without A. bind colored dyes to base sequences D 14. seldom occur in normal DNA. gel electrophoresis C.. B.3 • Workbook A • Copyright © by Pearson Education. What are SNPs? A. RNA replication C. All Rights Reserved. restriction fragments B 13. occur rarely in the sex chromosomes. What does “shotgun sequencing” do? A. differences in a base between two individuals C 15. enzyme activation C 12. or its affiliates. genes. C. Inc. exploring gene functions. restriction enzymes B. cannot be identified from DNA analysis. points where a restriction enzyme cuts a DNA molecule 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. Since people are aware of their family’s medical histories. such as those associated with disorders. 80% of all the Icelandic people who have ever lived can be added to a family tree. Fill in the Venn diagram to show how.3 • Workbook A • Copyright © by Pearson Education. would stand out.. In fact. or its affiliates. All Rights Reserved. Class Date The field of bioinformatics combines both life sciences and modern technology. so the gene pool is considered to be homogeneous. Inc. scientists would be able to test descendants with no signs of the disorder to see just how it is inherited between generations. Lesson 14. Medical records are just as detailed. Information nce Life Scie Statistics Sc i e nce Data Analyses Observations Visualizations Experiments Predictions Computer Modeling Databases Hypotheses 19. 225 . The Icelandic people have always placed high importance on knowing about their ancestors. The population is quite isolated. Unusual base pairs.Name 18.

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

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

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

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