MI Semester 1 Final Exam Study Guide PDF

MI Semester 1 Final Exam Study Guide Be sure to use the Semester 1 Final Exam Review Module on Canvas in addition to your assignments to help you complete this study guide. There will also be Kahoots and Quizlets posted on the Semester 1 Final Exam Review Module to help you study for the final....

MI Semester 1 Final Exam Study Guide Be sure to use the Semester 1 Final Exam Review Module on Canvas in addition to your assignments to help you complete this study guide. There will also be Kahoots and Quizlets posted on the Semester 1 Final Exam Review Module to help you study for the final. Lesson 1.1 - The Mystery Infection 1.1.1 Medical Interventions Inventory 1. What is a medical intervention? What are some categories of medical interventions? What medical interventions do you use in your life? A medical intervention is something that helps with the prevention, diagnosis or treatment of disease. It can alter or change the course of disease. 2. Brainstorm 3-5 medical interventions that could assist an athlete. Attend practice and conditioning, stretch before physical activity, take daily vitamins, eat well 1.1.2 Investigating an Outbreak 3. If there was an outbreak of disease at LHS, what tests/interventions can we use to identify the unknown pathogen and the path of infection? Describe each test/intervention and explain how it works. If we want to identify the path of infection, we would test the individuals who we think are sick in order to sequence the pathogen’s DNA with an automated sequencer. Once we have the DNA sequence of the pathogen causing the outbreak, we would put the DNA sequence into BLAST to identify the pathogen. After we have identified the pathogen, we would run an ELISA test with that specific pathogen antigen to determine the pathogen infection. 4. Miss Deister and her whole friend group are sick. How would we go about determining who was the original source of the infection? Once we knew which pathogen she and her friend groups had, we would run an ELISA for that specific antigen to determine the pathogen of infection. The person with the highest concentration of antigens has likely been sick the longest. 5. Think back to the situation at the university with Sue Smith. Who all was positive for meningitis? For those who were negative for meningitis, what pathogens did we end up diagnosing them with? Positive for meningitis - Sue, Jill, Maria, Marco Negative for meningitis - Anthony (influenza), Wanda (mono), Maggie (strep), Arnie (influenza), Arnie (mono)  MI Semester 1 Final Exam Study Guide 1.1.3 Using DNA to Identify a Pathogen 6. What is DNA sequencing? What is the purpose of PCR in DNA sequencing? DNA sequencing-Each fragment will stop a different base in the DNA using fluorescent dideoxynucleotides. Dideoxynucleotides stop DNA replication at a specific base. Throughout the PCR process these will be placed randomly so that there are fragments of all lengths made. The fragments move from the smallest to the largest through an automatic sequencer. The sequencer identifies the fluorescent dideoxy nucleotide, the last base in each of the fragments made, to tell us the sequence of the bases. 7. You enter the nucleotide sequence of an unknown pathogen into the BLAST site and you receive the following search results: Pathogen Max Total E-value Max Identical score score Score (%) Bacillus cytotoxicus 39.2 39.2 3e-7.2 85 Perkinsus marinus 41.0 41.0 3e-2.1 90 E. coli 0157:H7 42.2 42.2 3e-1.0 98 Staphylococcus pyogenes 40.8 40.8 3e-2.3 96 Which of the results is most likely the pathogen? E. coli 0157:H7 is most likely the pathogen because it has the highest max identical score. 1.1.5 ELISA 8. Explain the difference between pathogens, antigens, and antibodies. Pathogen - disease causing agent, could be bacteria, virus, fungus, prion, protozoa, worm, parasite. Antigens - protein markers that are found on living cells. This protein marker can cause an immune response within the body when the antigen is unfamiliar. Antibodies - created by B cells to attach to the antigen of pathogens. The antibodies are created by the immune system and mark foreign cells for destruction. Remember - pathogens contain surface antigens that antibodies attach to. 9. What is the correct order of components in an indirect ELISA test? *In order from what is placed in the well first to what is placed in the well last* Antigen from the sample, primary antibody, secondary antibody conjugated with  MI Semester 1 Final Exam Study Guide enzyme, and substrate. When the enzyme and substrate meet, that’s when the color change will occur. 10. An ELISA test can provide both qualitative and quantitative results. Describe what these results look like and what information they can provide us with. Qualitative results in the ELISA test would be the concentration of antigens each person is infected with, ex. Sue’s results show she has a concentration of 100 ug/mL of antigens. Quantitative results would be the color of the ELISA wells. The darker the color blue, the more antigens an individual has. 11. Complete the serial dilution for the tubes shown in the diagram below. Determine the tube and final dilutions for tubes 1-4. Deister’s notes: -Your fraction will always be (sample) / (sample + diluent) -If your numerator is not 1, you need to reduce it until the number is 1. -If the sample and diluent size are all the same, your tube dilution size will be the same for all 4 tubes. Tube and final dilution are always the same for tube 1. Tube 1 Tube 2 Tube 3 Tube 4 Tube Dilution 1/2 1/2 1/2 1/2 Final Dilution 1/2 1/4 1/8 1/16 Deister’s note: -You can either multiply the concentration by the tube dilution fraction (100 x ½) or divide the concentration by the denominator of the tube dilution (100 / 2) 12. Using the photo from #11, if the concentration of Tube 1 is 100 ng/mL, what is the concentration of tubes #2-4? Fill in the chart below.  MI Semester 1 Final Exam Study Guide Tube 1 Tube 2 Tube 3 Tube 4 Concentration 100 ng/mL 50 ng/mL 25 ng/mL 12.5 ng/mL 13. What would happen if you forgot to add the secondary antibody in an indirect ELISA test? If you forget to add the secondary antibody in an indirect ELISA test, we would not have any color change because the secondary antibody is conjugated with an enzyme. If we don’t have an enzyme, no color change would occur when the substrate was added. 14. What would happen if you forgot to wash the wells in an indirect ELISA test? If you forget to wash the wells in an indirect ELISA, your results would not be accurate. If all of the extra antigens and antibodies are not washed out, the concentration of antigens may appear higher than it actually is. Lesson 1.2 Antibiotic Treatment 1.2.1 Antibiotic Therapy 15. What are the differences between gram-positive and gram-negative bacteria? Gram-positive Gram-negative Thick peptidoglycan layer (cell wall) with Sandwich - cell membrane, thin thin cell membrane layer peptidoglycan layer, cell membrane Gram stains purple (positive = purple) Gram stains red/pink Produces exotoxins Produces endotoxins Strep Meningitis 16. Can we use antibiotics on viral pathogens? Explain why or why not. We cannot use antibiotics on viral pathogens because they are only meant to target structures in bacterial cells. 17. Label the bacterial cell below. Then list the functions of the cell structures.  MI Semester 1 Final Exam Study Guide Label Structure Function A Flagella Helps bacteria structure move B Ribosome Location of protein synthesis, where tetracyclines attack cells D Pilus Helps bacteria pass plasmid onto other bacteria cells, how conjugation occurs E Nucleoid Contains the chromosomes or essential DNA of the bacteria cell. F Capsule Protective layer of the bacteria cells, helps to prevent foreign bodies from entering the bacteria cells G Cell wall Layer of peptidoglycan that gives bacteria its structure, where B-lactams (penicillins) attack bacteria cell H Cell membrane Controls what enters and leaves the bacteria cell I Cytoplasm Fluid-like structure that holds organelles in place J Plasmid Bonus DNA in bacteria cell, can be passed from cell to cell via pilus, can contain antibiotic resistance, structure that is passed in conjugation 18. What are the four classes of antibiotics that we covered in this unit? How do they affect the bacterial cell? -B-lactams (penicillins) - Inhibit enzymes involved in the final steps of cell wall synthesis (peptidoglycan). Typically more effective against Gram-positive bacteria. -Fluoroquinolones - Inhibit enzymes called topoisomerases which maintain the supercoiling of DNA in bacteria cells. Prevents essential cell processes. Effective against a wide variety of GP and GN. -Tetracycline - Blocks the attachment of tRNA to the ribosome preventing the continuation of protein synthesis. Effective against certain GP and GN. -Sulfonamides (sulfa drugs) - Inhibits the folic acid pathway, preventing folic acid biosynthesis. Effective against many GP and GN bacteria.  MI Semester 1 Final Exam Study Guide 19. Which pathogens from the university students can be treated with an antibiotic? Meningitis and strep can be treated with an antibiotic because they are caused by bacteria. Influenza and mono cannot be treated with antibiotics because they are viral infections. 1.2.2 Which Antibiotic is the Best Choice? 20. If a bacteria is resistant to an antibiotic, what does that mean? What does it mean if a bacteria is sensitive to an antibiotic? Resistant - Antibiotic resistance occurs when bacteria no longer responds to a previously effective antibiotic. As a result, the antibiotic no longer works to treat that type of bacterial infection. Once a strain of bacteria becomes antibiotic resistant, it is much more difficult and expensive to treat the infection. Sensitive - The bacteria is killed off by the antibiotic. The bacteria does not have mechanisms of resistance towards antibiotics so the antibiotic is able to kill off the bacteria that way it should. 21. What is the zone of inhibition? What does it tell us in regards to antibiotic resistance/sensitivity? The zone of inhibition is the area of no bacteria growth around an antibiotic disk. If the bacteria grows all the way up to the antibiotic disk, the bacteria is considered resistant. If the bacteria has a zone of inhibition, it is considered sensitive to the antibiotic. 1.2.3 Attack of the Superbugs 22. What are the three methods of gene transfer that can lead to antibiotic resistance? Fill in the chart below. Gene Transfer Method Type of DNA transferred Description Conjugation Plasmid Direct contact via sex pilus Transformation Plasmid or chromosome Uptake of dead bacterial DNA Transduction Chromosome/Viral Virus injects DNA into bacterial cell 23. In the Attack of the Superbugs Lab, what gene transfer method occurred? Explain which strain of E. coli was transferred. Culturing bacteria on the four plates in Part I of the lab confirmed that each type of bacteria was resistant to one of the antibiotics, but not the other. E. coli I grew on the LB agar and streptomycin plates, because there was no antibiotic on the LB agar plate and it is resistant to streptomycin. E. coli II grew on the LB agar and ampicillin plates  MI Semester 1 Final Exam Study Guide because it was resistant to ampicillin and there was no antibiotic on the LB agar plate. Neither strain grew on the plate containing both ampicillin and streptomycin because E. coli I was killed by the ampicillin on the plate and E. coli II was killed by the streptomycin on the plate. The new strain of bacteria created in Part II of the lab has both genes for antibiotic resistance and is now resistant to ampicillin and streptomycin. Because no bacteriophage was used and no bacterial cells were killed, the DNA coding for ampicillin resistance in E. coli II was transferred to the E. coli I strain through conjugation. The first strain, E. coli I, contains a gene found on the chromosomal DNA coding for streptomycin resistance. The second strain, E. coli II, contains a gene found on the plasmid DNA coding for ampicillin resistance. Therefore, the ampicillin resistant gene must have been transferred from E.coli II to E. coli I since conjugation transfers plasmids and not chromosomal DNA. 24. In the Attack of the Superbugs Lab, we looked at two strains of E. coli. Which strain had streptomycin resistance? Was the streptomycin resistance found on the plasmid or chromosome? Which strain had ampicillin resistance? Was the ampicillin resistance found on the plasmid or chromosome? E. coli I contained streptomycin resistance on the chromosome E. coli II contained ampicillin resistance on the plasmid 1.2.4 When Antibiotics Fail 25. What will happen if a patient doesn’t take their antibiotic as prescribed? If a patient does not take their antibiotic as prescribed, they will not be able to kill off the bacteria in their body. Each time an individual skips their dose of antibiotics, the bacteria in their body is not being killed off and is reproducing. Ultimately, the extremely resistant bacteria are the hardest to kill off so these will remain in the patient's body. Lesson 1.3 Hearing Loss: The Aftermath 1.3.1 Good Vibrations  MI Semester 1 Final Exam Study Guide 26. Label the structures of the ear using the diagram above. # Structure Part of ear (inner, Function middle, outer) 1 Pinna Outer Collects sounds and funnels it to the auditory canal 2 External auditory Outer Connects the outer ear with the canal tympanic membrane 3 Malleus Middle Form a linkage between the tympanic membrane and the inner ear to send vibrations 4 Stapes Middle Form a linkage between the tympanic membrane and the inner ear to send vibrations 5 Tympanic Middle Beginning of the middle ear, made up membrane of a thin sheet of muscle that vibrates in response to sounds 6 Incus Middle Form a linkage between the tympanic membrane and the inner ear to send vibrations 7 Tympanic cavity Middle Helps transmit sound energy from outer to inner ear 8 Oval window Inner The boundary between the middle and inner ear, causes vibrations to pass into the cochlea 9 Semicircular canals Inner Contains fluid which moves when we do, helps us keep balance  MI Semester 1 Final Exam Study Guide 10 Cochlea Inner Transforms the vibrations into a neural signal 11 Eustachian tube Middle Tube that connects the middle ear with the pharynx and equalizes pressure between the two sides of the eardrum 12 Round window Inner Decompresses acoustic energy that enters the cochlea 27. Summarize how sound is processed in the ear. Sound waves enter the ear and travel through the auditory canal. These waves cause vibrations in the eardrum. The vibration of the eardrum causes the bones in the middle of the ear to move back and forth. The inner end of the stapes moves in and out of the oval window at the same rate the eardrum is vibrating. The movement against the oval window causes the motion in the fluid that fills the cochlea. The movement of the fluid causes the hairs in the fluid to move. This movement stimulates the attached cell to send a tiny impulse along the auditory nerve of the brain. The impulse is then translated into sound by the brain. 28. What is the difference between conductive hearing loss and sensorineural hearing loss? Include which part(s) of the ear are affected and list medical interventions that could be used for both types of hearing loss. Sensorineural hearing loss, the most common form of permanent hearing loss, is caused by damage to the inner ear (cochlea) or to the nerve pathways from the inner ear to the brain. Because the inner ear is responsible for changing sound waves to electrical signals (nerve impulses), if the inner ear is damaged, it can affect both the loudness and clarity of the sounds you hear. Sensorineural hearing loss is permanent and cannot be medically or surgically corrected. Conductive hearing loss is caused by problems with the conduction of sound through the outer ear canal through to the eardrum and ossicles of the middle ear. Conductive hearing loss can often be medically or surgically corrected. 1.3.2 Can You Hear Me Now? 29. What is an audiogram? Know how to read an audiogram. A graphic representation of the relation of vibration frequency and the minimum sound intensity for hearing 30. What are the job duties of an audiologist? An otolaryngologist? An audiologist is an expert of the ear who helps prevent, diagnose, and treat hearing and balance disorders due to dysfunction in the ear. An otolaryngologist is a doctor who treats conditions of the ear, nose, and throat.  MI Semester 1 Final Exam Study Guide 1.3.3 Cochlear Implants 31. What is a cochlear implant? Which type of hearing loss is this medical intervention recommended for? A cochlear implant is an electronic device that can restore useful hearing and provide improved communication abilities for persons who have bilateral (both ears), severe to profound, sensorineural hearing loss. It does not come preloaded with language information. Many recipients struggle to distinguish sounds, particularly in environments with a lot of background noise. The user must spend years in vigorous auditory-verbal training to learn to decode the signals to understand sound and speech. Cochlear implants do not correct conductive hearing loss, replace dysfunctional auditory nerves, nor aid with central auditory processing disorders 32. What are the benefits of a cochlear implant? Cochlear implants allow individuals to hear who might not have been able to hear before, individuals are able to hear their own voice and can help with pronunciation of words. It also allows for easier communication. 33. What are some drawbacks of cochlear implants? Cochlear implants cannot restore hearing back to “normal”, cochlear implants take a while to get used to,. Lesson 1.4 Vaccination 1.4.1 Disease Prevention Through Vaccination 34. Who is the father of vaccination? Which vaccination did he help create? Edward Jenner, he helped create the original vaccination for smallpox. 35. What are the different types of vaccines we discussed in class? Provide an example of each type. -Live-attenuated (Varicella, Shingles, Rotavirus) - Live-attenuated vaccines use disease-causing viruses that have been grown in a series of cell cultures or embryos (typically chick embryos). This causes the virus to be unable to replicate, or not replicate well, in human cells, and therefore, it cannot cause illness in a human. Because the virus itself is still intact, it will provoke an immune response, which will help protect against future infection. -Inactivated/Killed (Polio, Hep A, Influenza) - Inactivated (killed) vaccines are created by inactivating the pathogen, usually using heat or chemicals. This destroys the pathogen’s ability to replicate, but keeps the pathogen intact. Once inside the human body, the pathogen provokes the immune response and helps against future  MI Semester 1 Final Exam Study Guide infections. Inactivated vaccines tend to have a shorter length of protection than live vaccines and require boosters for long-term immunity. -Toxoid (Tetanus, Diphtheria, Rabies) - Toxoid vaccines are created by inactivating the toxin that a bacteria releases using heat or chemicals. The inactivated toxoid is then placed in the human body to elicit an immune response. -Subunit (Hep B, Pertussis, Pneumococcus) - Subunit vaccines use only pieces of the pathogen. One example of a subunit vaccine is a specific protein from the pathogen that can elicit a human immune response. Another type of subunit vaccine is created using genetic engineering. A gene that codes for a vaccine protein is inserted and replicated in a carrier virus. When inserted into the human body, the vaccine protein is recognized and an immune response occurs. -Conjugated (HPV) - Conjugate vaccines use pieces from the coats of bacteria along with a carrier protein. The two combined elicit an immune response from the human body when injected. The coat of bacteria or the carrier protein on their own would not be powerful enough to elicit a strong enough response. 36. Which type of vaccine requires boosters? Why does it require boosters? Inactivated/Killed typically require boosters because they do not have a long length of protection compared to live vaccines. 37. When a booster is administered, what is in the booster dose? An additional dose of the vaccine 1.4.2 Vaccine Development 38. What is herd immunity? How does vaccination contribute to herd immunity? Herd immunity is when a large amount of the population is immune to a specific disease. Vaccination contributes by giving individuals the immunity they need to not be infected with different diseases. 39. Explain recombinant DNA technology. Recombinant DNA (rDNA) is a technology that uses enzymes to cut and paste together DNA sequences of interest. Restriction enzymes like EcoRI are used to cut the DNA at specific locations, creating sticky ends. The ends are called sticky because they can hydrogen-bond (stick) to a complementary sequence. The advantage of sticky ends is that a fragment of human DNA can only fit into a bacterial plasmid in one direction. In contrast, if both the human DNA and bacterial plasmid have blunt ends, the human DNA can be inserted incorrectly into the plasmid and no desired gene will not be expressed. A plasmid is a small, circular, double-stranded DNA molecule that is separate from a cell’s chromosomal DNA. Plasmids naturally exist in bacterial cells, and they also occur in some eukaryotes. Plasmids have a wide range of lengths, from roughly 1,000 DNA  MI Semester 1 Final Exam Study Guide base pairs to hundreds of thousands of base pairs. Many naturally occurring plasmids contain genes that provide benefits to the host cell such as antibiotic resistance. In a typical cloning experiment, a target gene is inserted into a plasmid. The gene of interest is purified and the plasmid is cut with the same restriction enzyme, creating complementary sticky ends. Then the gene of interest is inserted into the plasmid and the two are combined using an enzyme called DNA ligase. This forms a new vector, a recombinant plasmid, that is capable of expressing a gene of interest such as insulin or human growth hormone. The bacteria absorb or take in the recombinant plasmid where it can be copied or expressed. As the bacteria reproduce, the plasmid along with the new gene of interest is passed on to the bacteria’s offspring. 40. What is unique about each restriction enzyme? Each restriction enzymes has a unique DNA sequence it cuts 41. What is the difference between sticky ends and blunt ends? In sticky ends, one strand is longer than the other (typically by at least a few nucleotides), such that the longer strand has bases which are left unpaired. In blunt ends, both strands are of equal length – i.e. they end at the same base position, leaving no unpaired bases on either strand. 42. What guidelines did we follow to insert the viral Hepatitis B DNA into the plasmid DNA? How many cuts did we make in the plasmid DNA? How many cuts did we make in the viral DNA? One cut in the plasmid Two cuts off the viral DNA Do not cut in the antibiotic resistance gene Do not cut in the origin Restriction enzyme uses sticky ends, not blunt ends 1.4.3 Life of an Epidemiologist 43. Describe the role of an epidemiologist in an outbreak. Epidemiologists are public health workers who search for the cause of disease, identify people who are at risk, and determine how to control or stop the spread or prevent it from happening again. 44. How do we calculate the food specific attack rate? # of individuals who are ill/total # of people affected 45. What is a cohort study? What is a case control study? In a cohort study (also called a prospective study), the investigator selects a group of  MI Semester 1 Final Exam Study Guide exposed individuals (individuals who have been exposed to the potential risk factor) and a group of non exposed individuals and follows both groups over time to determine the incidence of disease. In a case-control study (also called a retrospective study), a group of individuals with the disease are identified (called cases) and compared to a group of people without the disease (called controls). Cases and controls are carefully matched on all criteria other than the one being studied. For example, cases and controls should be matched for age, sex, or for underlying medical conditions. These individuals can then be surveyed about their exposure to the given risk factor. Lesson 2.1.1 Chronicles of a Genetic Counselor 1. Explain the difference between an autosomal trait and a sex-linked trait. Autosomal traits are traits that are found on the autosomes or chromosome pairs 1-22. They do not code for sex. Sex-linked traits are traits found on the sex chromosomes, so XX or XY (chromosome pair 23). While the sex chromosome can code for sex, they can also code for other traits as well such as color blindness, hemophilia, and muscular dystrophy. 2. What are the four blood types? What are the genotypes for each blood type? The four blood types are A, B, O, and AB. Genotypes for each blood type are below: Type A - IAIA or IAi Type B - IBIB or IBi Type O - ii Type AB - IAIB 3. What are the four types of genetic disorders that we discussed in class? Provide a description and an example of each. Single gene - Disorders caused by a change in the DNA sequence of one gene which results in a protein that can no longer carry out its normal job. Single gene disorders include autosomal dominant, autosomal recessive, and sex-linked recessive disorders. Examples of specific disorders include cystic fibrosis, Duchenne muscular dystrophy, and Huntington’s disease. Mitochondrial - Disorders caused by mutations in the mitochondrial DNA. These disorders are very rare and are passed exclusively from mother to child since mitochondrial DNA is passed from mother to child. An example would be Leber hereditary optic neuropathy. Multifactorial - Disorders caused by a combination of environmental factors and mutations in multiple genes. Many chronic illnesses are multifactorial. Examples include heart disease, breast cancer, and Alzheimer’s disease. Chromosomal - Disorders caused by extra or missing copies of chromosomes. These disorders can also be caused by breaks, deletions, or rejoining of chromosomes too. Examples are Down syndrome, Edward Syndrome, and Turner Syndrome  MI Semester 1 Final Exam Study Guide 4. What is a carrier screening? Provide an example of a couple who would benefit from a carrier screening. Carrier screenings are screenings meant for couples who have family histories of autosomal recessive diseases. This screening can help determine if the individual is a carrier for a copy of the recessive allele that would cause an autosomal recessive disease if two copies of the allele are present. A couple that has family histories are Tay-Sachs, PKU, cystic fibrosis, and other autosomal recessive traits would benefit from this type of screening. 5. What is PGD? What is in-vitro fertilization? If a couple is struggling to conceive, how could these methods potentially help them start a family? PGD stands for pre-implantation genetic diagnosis. It uses in-vitro fertilization techniques (sperm and egg fertilization outside of the body) and then allows geneticists to test the cells from the blastocyst (around day 5) for different chromosomal abnormalities and genetic disorders before the embryo is implanted in the body. (Sorry for the run on sentence) 6. List three different types of fetal screenings. Amniocentesis, chorionic villi sampling, and ultrasounds are all types of fetal screenings that are regularly used throughout pregnancies to monitor the health of the fetus. 7. What is the purpose of a newborn screening? Newborn screenings occur when the baby is born and test for genetic and metabolic conditions. The goal of a newborn screening is to make sure parents know if their child has a condition and if they do, have an understanding and how to take care of their child before leaving the hospital. The newborn screenings can vary from state to state where some states test for several conditions while some only test for a few. 🙂 *Also know the difference between autosomal dominant and autosomal recessive pedigrees. Know how to identify them Good luck! You got this!