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Unit 2 MI Study Guide Name: _____________________________________ Part I: Matching Match the below types of genetic disorders to their descriptions: 1. Single Gene Disorders a. caused by changes or mutations in the DNA sequence of one gene which results in the production of a non-functional protein 2. Multifactorial Disorders b. caused by a combination of environmental factors and mutations in multiple genes which results in many of the most common chronic illnesses 3. Chromosomal Disorders c. caused when there are missing or extra copies of genes, or breaks, deletions or rejoining of chromosomes 4. Mitochondrial Disorders d. caused by mutations in non-chromosomal DNA which is passed from mother to child Match the components of PCR to their functions: 5. Taq Polymerase a. designed to correspond to the start and end of the target DNA being amplified 6. Primers b. a thermostable enzyme used to extend the DNA 7. dNTPs c. free deoxyribonucleotides needed for extension 8. Buffer d. a solution used to incubate the reaction components Match the below steps of genetic testing to their descriptions: 9. Gel electrophoresis a. polymerase chain reaction 10. Restriction Analysis b. separation of DNA fragments based on molecular weight 11. Amplifying DNA c. recognition of SNP’s and cutting of DNA 12. Isolation DNA d. extraction of cells ---------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------Part II: Multiple Choice Examples 13. DNA was compared between two people. The comparison revealed the presence of a T instead of an A at one location. What can be said about the two DNA segments? A. They contain a SNP. B. They are the same allele. C. They are not useful for genetic analysis. D. They will not show an RFLP. 14. A person does not show any signs of having a disorder that runs in their family. What is the best way to determine if this person is heterozygous for this disorder? A. cloning B. carrier screening C. fetal screening D. CVS Unit 2 Study Guide, Pg. 1 of 4 15. Which lane has gone through the most cycles of PCR in the gel electrophoresis figure to the right? a. b. c. d. e. Lane 1 Lane 2 Lane 3 Lane 4 You cannot tell from this gel 16. If a restriction enzyme were to cut a strand of human DNA three times, how many RFLPs would show up on a gel after gel electrophoresis? a. Five b. Four c. Three d. Two e. One 17. A woman is pregnant with her third child. Her doctor is concerned that the fetus may have an extra chromosome. What would be the best method to determine if this is true? A. make a pedigree B. perform RFLP C. make a karyotype D. perform PCR 18. A disorder runs in a family. The disorder appears to be passed down from mother to daughter very frequently. This information suggests the disease is _____. A. a mitochondrial disorder B. due to a dominant gene mutation C. due to a single gene mutation D. is multifactorial 19. Taq polymerase is used in PCR because it _______. a. Replicates human DNA exclusively b. Catalyzes primer formation b. is heat stable d. will denature the DNA. ---------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------Part III: Short Answer 20. What is the purpose of PCR? List the steps and what occurs during each step. Unit 2 Study Guide, Pg. 2 of 4 21. The ability to dance is determined by a SNP that can be detected using a restriction enzyme. The enzyme is called JazzII, and it identifies the following sequence: AATT. It makes a blunt cut in the middle of the sequence as seen below: AA TT TT AA a. Review the two restriction sequences below and make any necessary cuts that would occur after the addition of JazzII: ATGGCAATTGGCC ATGGCACTTGGCC TACCGTTAACCGG TACCGTGAACCGG Dancer (DD) No Rhythm (dd) b. Interpret the electrophoresis gel and fill-in the blanks in below: Lane 1: Represents:_______________________________ Gel Electrophoresis Results after being treated with JazzII Lane 1 Lane 2 Lane 3 Lane 2: Genotype:________________ Phenotype:__________________________________ Lane 3: Genotype:________________ Phenotype:__________________________________ 22. Differentiate between reproductive cloning and therapeutic cloning. 23. Explain the difference between amniocentesis and chorionic villus sampling (CVS). Be sure to include details (how each test is performed, what is tested, when it can by tested, why the test is used). Unit 2 Study Guide, Pg. 3 of 4 24. Cystic Fibrosis is caused by a mutation in a gene on Chromosome 7. The gene codes for a transport protein that allows chloride ions across epithelial cells inside the lungs. An error in the gene causes the transport proteins to not function properly, causing a buildup of mucus in the lungs. The lung tissue is the target tissue for gene therapy. Lung tissue divides slowly or not at all. What gene therapy vector would you choose to use to treat cystic fibrosis and why would that vector be the best choice? 25. Using the information from the chart below, evaluate the following scenario: You have a patient that has come to you for gene therapy. The gene that is faulty is 10,254 base pairs long and is activated within the cells of the nervous system. Viral Vector Max base pairs Properties Vector A Vector B Vector C 8000 5000 20,000 Will integrate into host genome Will not cause an immune response Integrates into a wide variety of cells Integrates specifically into the in the body.. cells of the nervous system. Will not disrupt host genome during integration. May disrupt other genes when Will not cause an immune response. integrating Will not disrupt other genes when integrating. Can cause an immune response Which vector would be the WORST choice for gene therapy? ____________ Explain why you chose this vector: Unit 2 Study Guide, Pg. 4 of 4