Genetic (Karyotype) Assignment

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Genetic (Karyotype) Assignment.

I have a genetic assignment due by 11pm today EST. please if you can not deliver do not attempt. Attached here is everything you need. PLEASE Follow guideline before you begin. As you will notice, I started doing the assignment.

BIOL209: General Genetics Laboratory

Examining Human Chromosome Disorders

 

PRE-LAB ASSIGNMENT:

Students are expected to read all pages before coming to the lab to complete the experiments.

Print this entire lab packet and bring it to the laboratory.

Objectives:

After completing this laboratory assignment, students will be able to:

1. Distinguish between the ways to identify chromosomal abnormalities

2. Detect chromosomal abnormalities in a karyotype

 

Introduction:

Karyotyping is the process of pairing and ordering all the chromosomes of an organism, thus providing a genome-wide snapshot of an individual’s chromosomes. Karyotypes are prepared using standardized staining procedures that reveal characteristic structural features for each chromosome. Clinical cytogeneticists analyze human karyotypes to detect gross genetic changes—anomalies involving several megabases or more of DNA. Karyotypes can reveal changes in chromosome number associated with aneuploid conditions, such as trisomy 21 (Down syndrome). Careful analysis of karyotypes can also reveal more subtle structural changes, such as chromosomal deletions, duplications, translocations, or inversions. In fact, as medical genetics becomes increasingly integrated with clinical medicine, karyotypes are becoming a source of diagnostic information for specific birth defects, genetic disorders, and even cancers. Adapted from: https://www.nature.com/scitable/topicpage/karyotyping-for-chromosomal-abnormalities-298

 

Experimental Overview:

You and your partner will take on the role of cytogeneticists working in a hospital. Three case studies will be given to you one at a time for review, along with a set of patient chromosomes. You and your partner will arrange the chromosomes into a completed karyotype on a prepared board. After you have successfully constructed the karyotype, you will analyze it and diagnose each patient. Your patient may have a chromosomal abnormalities or a normal karyotype. Be careful and use your observational skills—things are not always as simple as they seem (especially Case K).

 

Protocol:

1. Obtain a Chromoscan board containing a case study and set of patient chromosomes. Each case study has a Case ID Letter and a unique color. Confirm that the chromosomes match the board.

2. Read the case study found on the left side of the board.

3. On the Cytogenetics Report, record the patient information, including name, case ID, reason for referral, patient age, and source of the cells.

4. To make the process of the karyotype assembly less complex, one of each of the homologous chromosomes is already illustrated on the board. Identify the other homolog and place it on the board in the proper position.

5. Once the karyotype is completed, analyze it for chromosomal anomalies, paying particular attention to chromosome number and structure.

6. Record chromosome number, gender, and chromosomal findings on the Cytogenetics Report.

7. Use the internet to determine the diagnosis of the patient.

8. Return the ALL the chromosome decals to the cryostorage region of the Chromoscan board in RANDOM ORDER, to prepare the board for the next group’s use.

9. Obtain another board and complete the same steps until you have completed a total of 3 case studies.

Instructions for the lab report:

· Assume the role of a Cytogenetist, write out a daily report for the work you accomplished today. It should include but is not limited to:

· A description of how an actual karyotype is constructed. It should be detailed enough that someone else can use your protocol to construct a karyotype.

· DO NOT write the protocol that you followed for this lab.

· Include the three cytogenetic reports that you completed today.

 

· Assume the role of a Genetic Counselor

· Choose one of the case studies with an abnormal diagnosis and research it in further detail.

· Create notes for the patient and/or the patient’s caregiver with additional implications of the diagnosis, including life expectancy, complications, available treatments, support group information, etc.

· Do not forget to include in-text citations and a “Works Cited” or References page.

 

 

 

 

 

 

Data Sheet:

 

Cytogenetics Reports for G-Banded Karyotype-III
Patient Name Case ID Age
Why is the patient being referred for karyotyping? Source of Cells for Karyotyping

____ Blood

____ Amniocytes

____ Chorionic Villi

____ Other (specify) __________________
Total Number of Chromosomes Observed Gender
Chromosomal Findings

____ no observable chromosomal abnormalities

____ monosomy (chromosome #____)

____ trisomy (chromosome #____)

____ deletion (chromosome #____, arm _____)

____ insertion (chromosome #____, arm _____)

____ translocation (chromosome #s____ and ____)

____ inversion (chromosome #____, arm(s) _____)

____other (explain)___________________________

 Diagnosis

 

 

 

 

 

 

 

 

 

Source of Diagnosis
Cytogenetics Reports for G-Banded Karyotype-I
Patient Name Case ID Age
Why is the patient being referred for karyotyping? Source of Cells for Karyotyping

____ Blood

____ Amniocytes

____ Chorionic Villi

____ Other (specify) __________________
Total Number of Chromosomes Observed Gender
Chromosomal Findings

____ no observable chromosomal abnormalities

____ monosomy (chromosome #____)

____ trisomy (chromosome #____)

____ deletion (chromosome #____, arm _____)

____ insertion (chromosome #____, arm _____)

____ translocation (chromosome #s____ and ____)

____ inversion (chromosome #____, arm(s) _____)

____other (explain)___________________________

 Diagnosis

 

 

 

 

 

 

 

 

 

Source of Diagnosis

 

 

Cytogenetics Reports for G-Banded Karyotype-II
Patient Name Case ID Age
Why is the patient being referred for karyotyping? Source of Cells for Karyotyping

____ Blood

____ Amniocytes

____ Chorionic Villi

____ Other (specify) __________________
Total Number of Chromosomes Observed Gender
Chromosomal Findings

____ no observable chromosomal abnormalities

____ monosomy (chromosome #____)

____ trisomy (chromosome #____)

____ deletion (chromosome #____, arm _____)

____ insertion (chromosome #____, arm _____)

____ translocation (chromosome #s____ and ____)

____ inversion (chromosome #____, arm(s) _____)

____other (explain)___________________________

 Diagnosis

 

 

 

 

 

 

 

 

 

Source of Diagnosis

 

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Genetic (Karyotype) Assignment

 
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Cellcycle Overview

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Cellcycle Overview. Click on the link provided below.

http://media.hhmi.org/biointeractive/click/cellcycle/?_ga=1.12670647.1279517233.1480957413

 

Download the worksheet from the assignment folder.  Complete as you progress through the lesson.

 

Read the overview in its own box.  Click on each “checkpoint” for the 5 phases of the Cycle. The phases are M, G1, G0, S, and G2. The reading for each phase appears in the box to the left.

When each has been completed, or clicked, the second title in the center of the cycle diagram, Cell Cycle Regulators and Cancer, will light up.

Click on this title, for the second part to appear.

 

Click on the Cancer Overview, and read the information in the box. Be sure to click through all 5 pages.

 

Now click and complete the Regulators Overview, clicking on each of the stimulating and inhibitory icons in each phase.

Answer any questions in the worksheet that apply.

 

Upload the completed worksheet into the assignment folder.

Due date for the assignment is in the syllabus. Proper grammar and spelling is expected.

 

 

www.BioInteractive.org                                        Published  February  2016

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THE EUKARYOTIC CELL CYCLE AND CANCER: AN OVERVIEW

ABOUT THIS WORKSHEET This worksheet complements the Click and Learn “The Eukaryotic Cell Cycle and Cancer” and is intended as a straightforward introduction to the cell cycle and how that relates to cancer. For a more comprehensive student worksheet, please see the in depth version.

PROCEDURE Read through the Click and Learn at (http://www.hhmi.org/biointeractive/eukaryotic-cell-cycle-and- cancer) to learn about the cell cycle. Answer the questions below. Click on the “Background” tab on the right side. Read the information and watch the videos. 1. Why is cell division important for both unicellular and multicellular organisms?

 

2. Why does cell division remain important to an adult organism even after it is fully developed?

3. Cells divide, differentiate, or die. What is differentiation?

4. What is apoptosis? What is its purpose?

5. What are cell cycle regulators?

6. What happens if cell cycle regulators don’t function properly?

 

 

 

 

 

 

www.BioInteractive.org                                        Published  February  2016

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Click on the purple section labeled “Cell Cycle Phases” as well as the words “Mitosis” and “Interphase” to read an overview of the cell cycle. You can also click on the various phases. 7. Cells go through periods of growth and division. Cell division occurs during _______________.

8. The rest of the cell cycle is called interphase, during which _____________________________

_____________________________________________________________________________.

9. Fill in the details about what happens during the three phases of interphase labeled in the

diagram.

 

 

 

 

10. In general, what is the purpose of a checkpoint in the cell cycle?

 

 

 

 

 

 

www.BioInteractive.org                                        Published  February  2016

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11. What is the G0 phase of the cell cycle? Which factors determine whether a cell enters G0? Can cells leave G0?

Click on “Cell Cycle Regulators and Cancer” in the center purple circle. Read the Regulators Overview and then read through the Cancer Overview and watch the videos. 12. What are cell cycle regulators?

 

a. Stimulatory proteins are encoded by _________________________________. Examples include: ______________________________________________________

b. Inhibitory proteins are encoded by ___________________________________________. Examples include: ______________________________________________________

13. Cancer is the result of an improperly regulated cell cycle. Describe two reasons why cells can form tumors.

14. In some types of colon cancer, stem cells have a mutation in the APC gene. What happens if the APC gene is mutated?

15. Normally, proto-oncogenes stimulate the cell cycle. What are oncogenes and how do they affect the cell cycle?

 

 

 

 

 

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a. To cause cancer, proto-oncogenes require _________ allele(s) to be mutated and therefore are considered ____________________. The mutation results in a __________ of function.

 

16. Normally, tumor suppressor genes inhibit the cell cycle. How do mutated tumor suppressor genes affect the cell cycle?

a. To cause cancer, tumor suppressor genes require _________ allele(s) to be mutated and therefore are considered ____________________. The mutation results in a __________ of function.

Cellcycle Overview

 
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Lab: CSI Wildlife, Case 2

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Lab: CSI Wildlife, Case 2. Complete all the activities in the attached lab instruction packet: CSI Wildlife, Case 2. Work through the instruction packet step by step. Record your results directly in the worksheet as you progress through the questions.

For any sections that request that you “take notes”, the notes should be in your own words summarizing information learned. You should not copy and paste information from the Internet including media and resources accessed in this lab. Directly copying and pasting information is considered plagiarism in this course.

Lab: CSI Wildlife, Case 2

Lab: CSI Wildlife, Case 2

 

General Instructions

 

Be sure to read the general instructions from the Lessons portion of the class prior to completing this packet.

 

Remember, you are to upload this packet with your quiz for the week!

 

Background

The scenarios investigated are based on the recently published literature: Wasser, S. K., Brown, L., Mailand, C., Mondol, S., Clark, W., Laurie, C., & Weir, B. S. (2015). Genetic assignment of large seizures of elephant ivory reveals Africa’s major poaching hotspots. Science, 349(6243), 84–87. The underlying data are available on the Dryad Digital Repository: http://dx.doi.org/10.5061/dryad.435p4.

 

Remember, DNA is made up of nucleotides and an allele is an alternative form of a gene which may be from mutation, but is found on the same place in a chromosome in individuals and functions similarly. If you are unfamiliar with these terms, make sure to review them in your book prior to completing the lab.

 

 

 

Specific Lab Instructions

 

Your Name:

Date:

 

Go to: http://media.hhmi.org/biointeractive/click/elephants/dna/index.html

And Click on Case Two

 

Part 1: Case Two

1. Watch the crime scene video and read the Case Two introduction on the first slide.

 

 

 

 

a. In Case One, you were looking for a match with an individual elephant. How does Case Two differ from Case One?

 

2. Click on Building a Reference Map.

a. Watch the short video. Elephant populations differ from one another. These differences are due to geographic distance and the length of time since their ancestors separated from one another. Explain how this relationship affects their relatedness.

 

3. Click on Technique in the Building a Reference Map section.

a. How does this gel differ from the gels you studied in Case One?

 

4. Click on the Application section.

a. Study the gel. Why does the ivory sample contain only two bands while the other lanes (samples A and B) have multiple bands?

 

b. If an ivory sample has two alleles that are also found in a population sample, does that tell you with certainty that the ivory sample came from that population? Explain your answer.

 

5. Click on the Review Section.

a. If the scientist had collected 20 dung samples, would you expect more bands, fewer bands, or the same number of bands on the gel? Explain your answer.

 

 

6. Proceed to the Finding a Location section.

a. Forest elephants and savanna elephants diverged over 2.5 million years ago, so some researchers think they should be classified as different species. Knowing this information, which genetic profiles would you predict would be more similar to one another: those of a forest elephant and a savanna elephant that are geographically close to one another, or those of two forest elephants that live far apart from one another? Explain your reasoning.

 

b. On the Eliminating North, East, or South page, which population did you eliminate?       Which marker(s) allowed you to make this choice?

c. On the next elimination, which population did you choose?       Which marker(s) helped you make this choice?

d. By analyzing many more markers and all the populations, Dr. Wasser linked these seized ivory tusks to which country?

 

Part 2: Ivory Trade

1. Watch the video on the Stopping Illegal Poaching slide.

a. Name two reasons elephant populations are threatened.

 

 

b. In summary, elephants are a keystone species. Based on your knowledge from this lab (Case 1 and Case 2), explain in your own words why it is important to the ecology and ecosystems of Africa to save the elephant populations.

 

Adapted from: Click and Learn “CSI Wildlife” (2016). CSI Wildlife Explorer Worksheet. HHMI Biointeractive Teaching Materials.

 

 

Page 1 of 7

Lab: CSI Wildlife, Case 2

 
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Napsrx Practice Quiz/

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Napsrx Practice Quiz/. 1.      How are drugs sorted into therapeutic group and classes?

A.      First by the conditions that they are used to treat, and then by their mechanisms of action

B.      First by their mechanisms of action, and then by their therapeutic effects

C.      First by their side effects, and then by their therapeutic effects

D.     First by their toxicity, and then by their effectiveness

2.      What section of a drug’s package insert describes situations in which the drug should not be used because the risks outweigh the therapeutic benefits?

A.      Adverse reactions

B.      Contraindications

C.      Overdosage

D.     Warming/precautions

3.      Which of the following is NOT one of the stages in the classic approach to band development strategy covered in your manual?

A.      Band personality

B.      Band positioning

C.      Band quality

D.     Band values

4.      What is the name of the condition that occurs after a specific dose of a drug is given at such regular intervals that absorption and elimination (and therefore drug plasma concentration) have become fairly constant?

A.      homeostasis

B.      steady state

C.      titration

D.     tolerance

5.      Which entity/entities invest/s the most money in pharmaceutical R&D?

A.      Canadian pharmaceutical companies

B.      The NIH

C.      The U.S Government

D.     U.S pharmaceutical companies

6.      Over the last few decades, what has happened to legal limitations sales’ reps discussions about off label uses?

A.      Limitations have decreased.

B.      Limitations have increased significantly.

C.      Limitations have increased slightly.

D.     Limitations have remained about the same.

7. Why are novice sales representatives often placed in charge of negotiating MCO formularies?

A. to become more familiar with the healthcare industry

B. to be more familiar with their territories

C. P&T committees are more receptive to new experienced reps.

D. They are not. This job is usually reserved for more experienced reps.

8.      Which of the following is an example of a central value?

A.      I buy Advil to show that I’m modern consumer.

B.      I like Advil because we were both born in the 80s.

C.      I prefer Advil because I like the flavor.

D.     I prefer Advil because it’s easier to swallow.

9.      Which of the following specialties likely has the MOST emergency calls?

A.      Cardiology

B.      Psychiatry

C.      Urology

D.     All specialists have the same number of emergency calls

10.  What affects the rate of active transport?

A.      The availability of carriers, but not energy

B.      The availability of energy, but not carriers

C.      The availability of carriers and energy

D.     Neither the availability of carriers nor the availability of energy

11.  Over the last few decades, what has happened to the FDA approval time for new drugs?

A.      It has been lengthened to ensure safer drug products.

B.      It has been lengthened to limit DTC marketing.

C.      It has been shortened to improve drug quality.

D.     It has been shortened to reduce the cost of new drug development.

12.  Which of the following would NOT help improve compliance?

A.      Patients liking their providers

B.      Patients using only one pharmacist

C.      Pharmacists understanding how generics differ from brand name drugs

D.     Support groups

13.   As the price a patient pays for prescription increases, what happens to the likelihood that the patient will fill it?

A.      It decreases

B.      It increases

C.      It remains unaffected because the prescription is needed

D.     It remains unaffected because the prescription’s increased cost is offset by its perceived value

14.  Which of the following is NOT one of the body’s major organ systems?

A.      The cardiovascular system

B.      The cellular system

C.      The gastrointestinal system

D.     The musculoskeletal system

15.   How do most drugs exert their primary physiological effects?

A.      By activating synapses between different types of tissues

B.      By binding to cell receptors that are sensitive to their presence

C.      By inhibiting synapses between different types of tissues

D.     Through genetic mutation

16.   What should a sale representative do if all of the prime spaces in a drug cabinet are occupied?

A.      Ask staff for permission to move some of the other products in the cabinet

B.      Ask staff for permission to throw away expired product in the cabinet

C.      Ask the doctor if he still needs some of the other products in the cabinet

D.     Surreptitiously move your largest competitor’s products out of the way

17.  It is inappropriate for physicians’ prescribing behaviors to be educated by their personal tastes and idiosyncrasies

A.      True

B.      False

18.  The FDA defines API as the active———-ingredient in a drug, which produces the desired change in the body.

A.      Pharmaceutical

B.      Positive

C.      Potent

D.     Primary

19.  What term describes the usage of a medication for purposes other than the FDA-approved indications on the labeling?

A.      Contraindicative indication

B.      Off-indication usage

C.      Off label use

D.     Off usage

20.  What is typically NOT a characteristic of a pharmaceutical rep?

A.      Pharmaceutical sales reps are authentic and real.

B.      Pharmaceutical sales reps are creative.

C.      Pharmaceutical sale reps are focused.

D.     Pharmaceutical sale reps are not concerned about competitors.

21.  Which of the following refers to all active and inert pharmaceutical ingredients in a drug, including fillers and colors?

A.      Formulation

B.      Mycoplasma

C.      Peptide

D.     Saccharide

22.  Senior citizens consume over——–times as many pharmaceutical as people under 65.

A.      Three

B.      Five

C.      Ten

D.     Fifteen

23.  What is passive diffusion?

A.      A type of pinocytosis

B.      Membrane transport via vesicles

C.      The use of energy to help a substance pass from a low concentration gradient to a high one

D.     When a substance freely moves through a membrane from a high concentration gradient to a low one

24.  What are all metabolites?

A.      Type of pinocytosis

B.      Membrane transport via vesicles

C.      The use of energy to help a substance pass a low concentration gradient to a high one

D.     When a substance freely moves through a membrane from a high concentration gradient to allow one

25.  When a drug is administered orally, where does first-pass metabolism occur?

A.      Intestine

B.      Liver

C.      Pancreas

D.     Stomach

26.  Which of the following is NOT part of the Seven Step Cascade of Emotion?

A.      Be a consultant, not a rep

B.      Identify what your product does

C.      Reflect

D.     Visualize the power 10

27.  If a sales representative’s product is placed on the second tier of a standard three-tier formulary, which of the following is most likely true?

A.      It has not been reviewed by the P&T committee.

B.      It is in a neutral position unless it is at parity with other drugs

C.      It probably has exclusive preferred status if it is not at parity with any other drugs.

D.     It will essentially sell itself if it is granted exclusive preferred status.

28.  According to your manual, what is a common complaint that physicians have about traditional sampling methods?

A.      That drug sample supply is too unpredictable

B.      That patients are less likely to take free samples because they think they are lower quality

C.      That patients do not like seeing drug representatives in their offices

D.     That they receive too many drug samples

29.  Which of the following would help you build trust with a physician?

A.      Asking if he or she is having any problems with the managed care coverage of your products

B.      Repeating a question you already asked

C.      Surprising the office staff with a new poster in the break room

D.     None of these would help you build trust with a physician

30.   As of November 2013, which of these countries has legalized DTC advertising of prescription drugs?

A.      Canada

B.      Japan

C.      Spain

D.     None of these

31.  Which phase of clinical trial is also known as the pivotal phase?

A.      Phase I

B.      Phase III

C.      Phase IV

D.     Phase IX

32.   During which phase of clinical trials is also known as the pivotal phase?

A.      Preclinical

B.      Phase I

C.      Phase II

D.     Phase III

33.  What is one of the biggest time wasters for a pharmaceutical sales rep?

A.      Winterers

B.      Pharmacists

C.      Receptionists

D.     Physicians

34.   What is the percentage fee that the dispenser pays the wholesaler for distribution?

A.      Margin fee

B.      Recharge

C.      Standard fee

D.     Upcharge

35.  Which of the following is an example of noncompliance?

A.      A patient forgetting to take a drug at a specified time of day

B.      A patient taking a drug, but only because it has been court-mandated

C.      A pharmacist dispensing a generic equivalent of a drug instead of the brand name

D.     A physician refusing to prescribe a drug because he or she does not trust the clinical studies on it

36.  What is one way in which pharmaceutical selling is different from selling in most other industries?

A.      In pharmaceutical sales, the decision-makers consumers, and payers are usually the same entity

B.      Pharmaceutical selling takes less time because doctors are so busy.

C.      Representatives do NOT sell to the user of the product.

D.     Representatives DO sell to the end user of the product

37.  Drugs can be used—– days beyond their expiration date.

A.      2-7 days, depending on the most current monograph.

B.      2-90 days, depending on the state laws

C.      7-90 days, depending on the type of drug and its therapeutic class.

D.     None of these

38.  What issue has MOST encouraged consumers’ desire to see more OTC medications?

A.      A weaker patients ‘right movement

B.      Lack of insurance coverage

C.      Less reliance on the internet

D.     Proliferation of herbal remedies

39.  Which phase of trials largely determines the clinical dose?

A.      Preclinical trials

B.      Phase II trials

C.      Phase III trials

D.     Phase IV trials

40.  What must be contained in the Description section of a pharmaceutical package insert?

A.      Adverse effects

B.      Mechanism of action

C.      Pharmacokinetics

D.     The proprietary name and the established name

41.   Customers purchase products from people they like, trust, and respect. This is called the———-

A.      Closing of the sale

B.      First time advantage

C.      Likeability factor

D.     Power of knowledge

42.   According to your manual, how has the U.S. healthcare marketplace changed in the last few decades?

A.      Fewer and fewer prescription drugs have been made available as OTCs.

B.      Managed care has been increasingly replaced by more patient- centered approaches.

C.      The aging Baby Boomer generation has begun demanding more personalized attention.

D.     There has been decreased emphasis on preventive health.

43.  How does pharmaceutical marketing help narrow the treatment gap?

A.      It encourages patients to take more active roles in their healthcare.

B.      It makes doctors more skeptical of the pharmaceutical industry.

C.      It makes patients more skeptical of their doctors’ opinions.

D.     All of these

44.  The FDA requirements for nutraceuticals and medicinal herbs are just as stringent as for pharmaceuticals.

A.      True

B.      False

45.   After a trade-name drug’s patent expires, how may generic versions of it be sold?

A.      Only under the branded generic name

B.      Only under the generic name

C.      Only under the original trade name

D.     Under the original trade name or a generic name

46.  What is required for a new pharmaceutical to be considered a viable therapy?

A.      It causes no serious adverse effects.

B.      It causes no side effects.

C.      It has an active placebo.

D.     It is more effective and/or causes fewer serious adverse effects than other drugs on the market.

47.   A generic version is likely to have some inactive ingredients that are different from those of the original drug.

A.      True

B.      False

 

48.  Where are most drugs metabolized?

A.      Interstitial spaces

B.      Liver

C.      Stomach

D.     The bloodstream

 

49.  What is essential to the ethical requirement that subjects be selected fairly?

A.      Selection criteria should be well-supported by documented evidence.

B.      Studies should make every attempt to conduct research on subjects who are underprivileged and in need of medical attention

C.      Subject should be selected based on scientific objectives.

D.     All of these

 

50.  Which of the following is NOT typically included in the indications and usage section of the package insert information?

A.      Diseases or conditions that the drug is approved to treat

B.      The drug’s active metabolites

C.      The drug’s recommended usual dosage

D.     The drug’s usual dosage range

 

 

Napsrx Practice Quiz/

 
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