DNA Fingerprinting and Genetic Counselling

timer Asked: Apr 11th, 2017

Question Description

Complete #1-8 under the Week 1 Preparation section of this document and read through the Week 1 lab activities scheduled

DNA Fingerprinting and Genetic Counselling
DNA Fingerprinting and Genetic Counselling
DNA Fingerprinting and Genetic Counselling
DNA Fingerprinting & Genetic Counseling Spring 2017 WEEK 1 PREPARATION 1. Read about ‘restriction enzymes’ (RE’s) on page 234 of your textbook and on pages 56 – 57 of the lab manual (“Introduction to DNA Fingerprinting”). Answer the following questions: a. b. c. d. e. What type of molecule are RE’s? What do RE’s do to DNA? What is a recognition site? Where do RE’s come from? How do they benefit this organism? 2. Preview “Separation of DNA by agarose gel electrophoresis” on page 75 of the lab manual, then go to the DNA interactive web site ( http://www.dnai.org/index.htm ) and select “Manipulation” then “Techniques” then “Sorting and Sequencing” (2nd row, top of the page), then “Gel electrophoresis”. Read the descriptions as you click through the animation. Follow the instructions (e.g., you need to click on the power supply to turn on the gel). You will be simulating this technique in this lab and performing this technique later in the semester. (If the link above is not working, a second website you can use to answer the questions below is: http://learn.genetics.utah.edu/content/labs/gel/) Answer the following questions: a. b. c. d. e. What is the purpose of GE? Gels are porous – why is this important? Why do DNA fragments move through the gel? What determines how fast or far a DNA fragment will move through a gel? Why is blue dye added to the DNA sample? 3. Preview WebCutter on pages 58 – 62 of the lab manual. You will be doing this exercise in lab. Read page 71 of the lab manual, “A day in the life of a genetic counselor”. 4. Read about gene mutations – small changes in the nucleotide sequence within one gene, textbook section 10.16. 5. Use the University of Utah’s Learn.Genetics website http://learn.genetics.utah.edu/content/disorders/ and the National Human Genome Research Institute website http://www.genome.gov/19016930 to learn about genetic disorders. Answer the following questions: a. What are genetic disorders? b. Specifically, what are single gene disorders? c. What is a genetic counselor? 6. Visit the following site to familiarize yourself with how family pedigrees are constructed. • http://www.ndsu.nodak.edu/instruct/mcclean/plsc431/mendel/mendel9.htm • You may wish to draw a pedigree of your own family (or a fictitious family) for practice, starting with your grandparents (both pairs) and showing all of their children and grandchildren. DNA Fingerprinting & Genetic Counseling Spring 2017 7. There will be a prep quiz at the beginning of class. Review your notes! 8. Be sure to bring your lab manual and a laptop (if possible) with you to lab. WEEK 1 IN LAB ACTIVITIES • • • Webcutter exercise, lab manual pages 58-62 Pedigree – analyze the family history of a couple concerned about the disease you are researching; construct a pedigree based on the reported phenotypes for the couple’s entire family, starting with the grandparents If possible, determine the inheritance pattern (autosomal dominant, autosomal recessive or Xlinked recessive) of the disorder you are researching by reviewing the pedigree you constructed. Add genotypes (wherever possible) to your pedigree – you will not be able to determine the genotype of some individuals until you analyze the couple’s DNA next week. WEEK 2 PREPARATION 1. Read over the following sections in Chapter 9 in your text: 9.2, 9.3, 9.8, 9.20, 9.21. 2. Preview Agarose Gel Electrophoresis on pages 74-76 of the lab manual, you will be doing this activity in lab. 3. Each team member should be able to answer the following questions about the specific genetic disease that you have been assigned (even if a particular question does not correspond to your part of the presentation.) Bring this information back to lab! Suggested sources: http://ghr.nlm.nih.gov/ (type disorder name into search bar) http://learn.genetics.utah.edu/content/disorders/singlegene/ https://www.genome.gov/10001204/specific-genetic-disorders/ http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation (how geneticists indicate the location of a gene*) (Keep track of additional sources since you will need this information in your final presentation.) a. b. c. d. e. f. What is the major symptom of this disease? What other symptoms are seen? What organ(s) or system(s) of the body are most affected? What is the typical age of onset? What is the prognosis? (On average, about how long does a patient live?) What is the name of the defective gene? On which chromosome is the defective gene located? What is the specific location of the defective gene*? g. What is the name of the protein affected by this disorder, and what is its normal function? h. Is the disease-causing allele dominant or recessive? Autosomal or X-linked? i. What type(s) of mutation are most commonly associated with disease (e.g., singlebase or multiple-base change; substitution, deletion, or insertion; etc.)? j. How does the change in the protein caused by the mutation (i) lead to the major symptom (a)? DNA Fingerprinting & Genetic Counseling Spring 2017 k. What percentage of the population is affected with this disease? What percentage are unaffected carriers? 4. There will be another prep quiz at the beginning of class. Review your notes! WEEK 2 IN LAB ACTIVITIES • • • • • Determine who is responsible for each part of your presentation that is due next week Complete a pedigree analysis activity On Blackboard during week 2 you will have allele maps posted for each disease. Use the allele maps (see analysis of restriction fragments starting on page 76) to predict the bands you would expect to see if an individual is homozygous normal, heterozygous or homozygous diseased for your disorder. We will call this drawing a “mock gel”. Load the RE digested DNA samples from your family members on the gel as instructed. After the gel runs, use the “mock gel” to interpret the bands on the gel. Determine the genotype and phenotype of each individual. Complete the pedigree with genotypes of the remaining family members (use a ? for alleles that cannot be determined with certainty, for example “F?” ) WEEK 3 1. Poster/PowerPoint presentations and oral reports; final assessment in lab

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