Medical Interventions: Semester 1 Final Exam
Describe the origin of CRISPR-Cas9
Originally Part of a Bacterial immune system
Explain how CRISPR-Cas9 cuts DNA precisely, and how it can be engineered to cut any gene desired
First, it cuts to create blunt ends, then aligns with a 2o bp long segment of sgRNA that is complementary till it bines to DNA, then the PAM Sequence aligns to show where to cut.
Describe the roles of all parts of the CRISPR-Cas9 system, including Cas9, sgRNA, and the PAM
Cas-9 Protein Cuts in blunt ends
sgRNA binds and is what we can change
PAM is the NGG sequence that shows where to cut
Explain the differences between homology directed DNA repair and non-homologous end joining. Describe how one can be used to insert new genes into a bacterial or eukaryotic genome.
Homology directed DNA repair: (HDR) makes blunt ends sticky and inserts a new piece of DNA
non-homologous end joining: cell attempts to repair break by adding nucleotides to the cut, causing high mutation rates
Describe the steps of PCR, and explain how it can be use in analysis of genes (in particular, what is the role of PCR in determining if genetic changes have occurred in a cell?).
Denaturation: Strands separate (HOT)
Annealing: Primer Bind (COOL)
Extending: DNA is copied with Taq Polymerase (WARM)
Need DNA, primers, nucleotides, and Taq polymerase
Helps amplify DNA so we can see it when preforming Gel Electrophoresis
Describe the principles of gel electrophoresis and use gel electrophoresis results to determine if genetic editing has occurred.
If we compare a control to the edited DNA we should see different lines from the control
Lesson 1.1
Identify symptoms and treatment based on pathogen identity
Perform serial dilution calculations
Explain the mechanism behind an ELISA test
Antibodies bind to specific antigens and then the enzyme cuts the substrate and it turns blue if antigen is present
Interpret the results of an ELISA test to determine if a patient is positive or negative for a particular disease
Positive = blue
The more blue the more antigen is present
Lesson 1.2
Describe differences between gram positive and gram negative bacteria
Gram positive: have a thick peptidoglycan cell wall with no outer membrane (purple or blue)
Gram Negative: thin peptidoglycan call wall covered by an outer membrane (pink)
List four classes of antibiotic and what type of bacteria they are most likely to affect.
B-Lactam: interrupt cell wall growth (gram negative)
Tetracyclines: interrupt ribosome function and protein synthesis (both)
fluoroquinolones: inhibit DNA synthesis (gram negative)
Sulfonamides: inhibit bacterial metabolism, specifically the synthesis of folate (both)
Choose an antibiotic for a particular pathogen using data about the mechanism of action of the antibiotic and the identity of the pathogen
Describe how antibiotic resistance spreads at the organismal level (e.g. in chicken farms, or in patients who don't take all of their antibiotic)
Describe how antibiotic resistance spreads at the molecular level (e.g. how bacterial DNA can be exchanged)
Interpret the results of experiments designed to test the exchange of bacterial genetic information.
Lesson 1.3
Identify structures in on a diagram of the ear
Describe how dysfunction in human anatomy relates to different types of hearing loss
Describe how is hearing loss diagnosed
bone conduction and air conduction
Explain how each type of hearing loss is related to different options for treatment
Discuss the bioethical concerns related to the use of cochlear implant technology
Lesson 1.4
Variolation: deliberate infection with small box
Edward Jenner: created small pox vaccine derived from cow pox
John Snow: choler and the street water pump
How Vaccines Work (immune system stimulation description)
activates immune system with macrophages
Causes of death and reasons for changes in the last 100 years
Example of specific vaccine and vaccination schedule
Live-attenuated Vaccines: lose ability to replicate
Inactivated Vaccines: Destroy pathogen but keep it intact enough to produce an immune response
Toxoids: create immunity to a bacteria’s toxins
Subunit Vaccines: piece of the pathogen to elicit a response
Example of one type of vaccine with specifics about how it is made
Using recombinant DNA to make a subunit vaccine
create antigen molecules from microbes that are created in a lab
Plasmids: mall, circular DNA molecules that replicate independently from a cell's chromosomal DNA
Restriction enzymes: cut DNA in specific parts
Sticky ends: don’t cut all
Epidemiology: the study of how and why diseases occur in a population, and how to prevent them
Questions for an epidemiological investigation
Attack rate, and using it to determine what is causing a disease: sick/all who ate
Cohort Study vs. Case-control study
A case-control study starts with individuals who have a disease (cases) and compares their exposure to a potential risk factor with a group of people without the disease (controls),
a cohort study follows a group of people over time to see how many develop a disease based on their exposure to a potential risk factor, essentially moving from exposure to outcome
Lesson 2.1:
What are different types of genetic disorders? Give examples of each. (2.1.1)
Single gene disorders: change or mutation in the DNA of one gene
Multifactorial disorders: combination of environmental and genetic factors
Chromosomal disorders: missing, broken or extra copies of chromosomes
How could a genetic counselor help someone diagnosed with a particular disorder? (2.1.1)
What is polymerase chain reaction? When is it used? Describe how it works. (2.1.2)
What is genotype and phenotype? (2.1.3)
genotype: genes
phenotype: visuals/how it presents
Describe the process of determining genotype for a particular trait (example: PTC tasting). In other words, describe each step of the PTC tasting lab and how they each work. (2.1.3)
collect DNA, replicate, and compare to controls to see how many BP
How can you analyze the results of gel electrophoresis? (2.1.3)
What are common prenatal screening and diagnostic tests? When is each one used? (2.1.5)
carrier screening: determine whether they could give it to the baby
preimplantation genetic diagnosis; IVF to diagnose a genetic disease before implementation
Fetal Screening: diagnose a genetic condition in a developing fetus
What is a karyotype, and when is it used in prenatal testing? (2.1.5)
What is gestational diabetes, and how does a glucose tolerance test work? (2.1.5)
get it during pregnancy
measures how well your body manages blood sugar levels. It involves fasting and drinking a liquid that contains glucose, and then having your blood sugar level checked multiple time