Genetics

Writing Assignment #1: Personal Statement

It was once said that not all heroes wear capes, and coming from a military family made the expression so much more than true. The people of Fort Bragg military base saw their heroes in many different shades of camouflage and fancy military suits. However, my hero did not present herself to me in a cape, military gear, or even in any clothes at all. My hero came with pedigree papers and a big red collar. 

In 2008, I was new to the city of Fayetteville, North Carolina. I was just beginning kindergarten, and my mother had just returned home from her second deployment.  Not too far away, in the city of Lumberton, a litter of boxer puppies had been born. We were just starting to get accustomed to our new house, and my family just so happened to go to that one place to pick out that one special puppy. My siblings and I would dress her up and include her in all of our crazy games. We would march around the house pretending to be soldiers and even have our own little wars.She even took one for the team when we told our parents we had no idea why their living room resembled a war zone. 

As I got older I found myself entrusting my secrets to my four legged friend. Things got hard for me when my mother deployed again, and things only got worse.When my mother returned, our house got foreclosed and my parents split. When I looked for a hand to lift me up, I found paws. In my teenage years we moved states entirely. Switching high schools and sports teams was completely nerve wracking. However, I knew that if no one else could accept me, my dog would. In the beginning of my eleventh grade year I discovered I had a large mass covering my ovaries. That experience was frightening, but as usual my dog stayed by my side the entire way. So when we found out she had a large mass on her heart, I stayed by her just like she had always stayed by me. She had a great heart, which makes it ironic that was the thing killing her. In October 2019, my senior year, her fight was over. 

No one could have predicted the impact one boxer pup would have made on a military brat just starting kindergarten in a new place. Roxi was not only my childhood family pet and best friend; she was my role model. Through the good, such as sport championships, new jobs, and new experiences to the bad, such as tumours and deployments, Roxi influenced my life more than I would ever know. She helped me realize at a young age that I should always keep my head up, even if things seem like they are never going to get better. She taught me responsibility, acceptance, and how to overcome fear with love. Most importantly, Roxi taught me not to take anything for granted, because you never know when it could all be gone.

Heroes come in all shapes and sizes. Oftentimes, the least expected candidate makes the greatest impact on people’s lives. My hero helped me understand the world through her mindset and personality. My hero did not wear a cape; she wore a big red collar. Her sole existence sparked my interest to further my education in veterinary science. I want to study this field in order to help keep man’s best friend healthy and happy, so they can further influence the lives of their owners. To help achieve this career goal I actively help out in rehabilitating retired race horses in order to find their forever home,  all while maintaining a high GPA average and working full-time to pay for school.

Writing Assignment 2: Peer and Review Article

From new findings to ever evolving organisms, science is an always changing field of study. Therefore, it is critical that scientists have a way to share and document their findings in order to ensure that their new found discoveries can be shared within the scientific community. Primary, or empirical, research studies provide scientists with the opportunity to spread their research. Empirical studies can be original scientific reports or new research findings. Most of these studies are often composed of an introduction to the topic of research, methods used, results of the study, discussion of the topic, and references used to establish credibility. 

Secondary sources, such as review articles, summarize and interpret original research. Survey articles, overview articles, and  review articles are all different terms for secondary sources. Review articles allow critics to organize and analyze the research of others on specific topics. These types of articles do not report new facts or analysis on a topic, but simply reviews and summarizes studies that have been previously published. They provide an easily comprehensible summary of research in a particular field and are a form of peer-review. 

Peer-reviewed articles, often referred to as refereed- articles, have often been through a review process that can be quite vigorous. Before an article can be published, it must go through this process. Throughout this process, the articles will undergo many revisions by peers in the same scientific discipline. A draft article is first made by a scientist and it includes the research conducted. The scientist would then submit it to a scholarly journal where it waits to be approved by the journal editor. If the article is accepted it is sent to a group of experts that begin judging the quality of the article. The final decision comes down to the editor and most articles are rejected. Ones that are accepted can take years to be published. 

The differences between review articles, peer review journals, and the peer review processes are evident, however, all three depend on one another. As stated above the peer review process determines whether or not an article makes it into a peer-reviewed journal. A peer review journals are scientific journals pertaining to a certain field that have been peer reviewed. This is important because it ensures that all articles in the journal are accurate, meaningful, and professionally executed. A review article, as stated in the previous paragraphs, are one’s interpretation or summarization of the primary article submitted in these journals.

The proper identification of review or primary articles is important because it is important that the reader knows if information is coming straight from the source or from someone else’s interpratation.  “An mRNA Vaccine Against SARS-CoV-2”  is a perfect example of a primary article because it includes methods, results, and conclusions. It is also called a preliminary report, which is the first report constructed before the final copy. A list of all the scientists involved is also included. The Covid-19 vaccine report is an example of a review article because it summarizes multiple studies on Covid-19 with the report; no new research was being conducted, it collectively combined the research of others. 

Works Cited

“Tutorial: Scholarly Literature Types: Primary vs. Secondary Articles.” LibGuides, guides.library.cornell.edu/c.php?g=293669&p=2004549.

Writing Assignment #3: Primary Article Citation

Bergsma, AJ. et al. A genetic modifier of symptom onset in Pompe disease. EBioMedicine; https://doi.org/10.1016/j.ebiom.2019.03.048 (2019).

Writing Assignment #4: Genetics-related, primary article in a peer-reviewed journal.

A primary article is an article that reports on an empirical research study conducted by the authors of the article. Primary articles are used to describe research methods used and provide the results of the study to members of the scientific community. “A genetic modifier of symptom onset in Pompe disease” is a scientific primary article that can be found in EBioMedicine, a peer-reviewed journal. Peer-reviewed journals ensure the quality of an article due to the vigorous process of the article being consistently reviewed and edited by experts specialized in that specific field. 

This particular article pertains to the field of genetics due to the problem that neonatal screening for Pompe disease is complicated because there are problems in predicting the symptom onset in patients with the fully deleterious acid alpha-glucosidase (GAA)  genotype.  Pompe disease is an inherited rare disease that is often fatal due to its ability to disable heart and skeletal muscles. The disease is caused by a mutation that is responsible for making GAA.

The primary article on Pompe disease is structurally organized and contains an abstract, introduction, materials and methods section, and discussion; which are all consistent with the structure of a primary article. In the article the scientists analyzed a group of individuals that consisted of 143 compound heterozygous and 10 homozygous pompe disease patients. Within this group they assessed the ages of onset, the presence of cis-acting single nucleotide variants (SNVs), and performed splicing anlysis and enzyme activity assays.  c.510C>T was uniquely present on the IVS1 allele in 27% patients that had childhood onset, but was not present from 110 patients with adulthood onset. In homozygous IVS1 patients, the c.510C>T variant was absent in 100% asymptomatic individuals and present in 50% symptomatic patients. In cells from homozygous IVS1 patients, c.510C>T  reduced leaky wild-type splicing.From this research they discovered that c.510C>T is a genetic modifier in compound heterozygous and homozygous IVS1 patients. The finding of this study is important for the neonatal screening programs in Pompe disease.

Works Cited

Bergsma, AJ. et al. A genetic modifier of symptom onset in Pompe disease. EBioMedicine; https://doi.org/10.1016/j.ebiom.2019.03.048 (2019).

Writing Assignment #5: Summary of genetics-related article from a newspaper/magazine with a supporting scientific review article.

Writing Assignment #5

The textbook definition of a gene defines it as the basic physical and functional unit of heredity. Genes are composed of DNA and each gene carries the instructions that help determine physical features, such as height and hair color. There is no question that genes are a factor that determines physical traits; however, many scientists wonder whether or not how people behave has something to do with an individual’s genetic makeup. On March 18, 2021, an article was published on The Washington Post that evaluated criminal defendants still citing a “gene for violence”, and going even further in saying this gene simply does not exist. 

The authors of the article argue that the New Mexico Supreme Court missed its chance last month to end the controversy of the alleged gene for violence and confirm the scientific consensus that it is not real. Anthony Blas Yepez, who murdered a man in 2012, went to trial providing evidence that he possessed the “warrior gene”. The gene in question is known as MAOA, and has been linked to violence in some studies. The court ruling however, showed that this evidence did not hold any effect on the trial’s outcome. However in other cases one defendant avoided the death penalty and others got lesser charges by using the “warrior gene”. The authors conclude that the Court should have specified that this gene is based on obsolete science and should not be used in court. They believe that behavior is not caused by a single gene but through other factors such as environment.

A review article written by Mariya Moosajee, supports the evidence that the monoamine oxidase gene is not the sole basis of violent behavior. Violent behavior is a highly complex multifactorial trait that is most dependent on the environment in which a person grows up. She argues that every person has the capability to be violent, but most people have the ability to control violent tendencies. The incapability to control this trait leads to other mental disorders suspected to be dependent on other genes. Moosajee goes on to review previous experiments conducted that show a link between humans and animals to the MAOA gene and an increase in violence. Her argument also consists of the warrior gene and other non-genetic contributions that may also play a part in aggression. Childhood maltreatment of young children shows that those children are more likely to become a violent offender or have antisocial behavior.  In general, there is not sufficient evidence to determine whether a gene is a sole cause of violence, however most scientists agree that violence is a multifactorial trait that can be caused by other things than genetic predisposition.

Works Cited 

Farahany, N. Robinson, GE.Criminal defendants still cite a ‘gene for violence’. It doesn’t exist. The Washington Post; https://www.washingtonpost.com/outlook/2021/03/18/genetics-criminal-defense-warrior-violence/(2021). Moosajee, M. Violence—a noxious cocktail of genes and the environment. J R Soc Med. doi: 10.1258/jrsm.96.5.211 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC539471/ (2003).

COVID ASSIGNMENT

Virology Introduction

1.  Give an example of each type of RNA virus according to the genome in the following diagram (Class III-VI).  For example, you can give coronavirus for Class IV. 

  Class III: (double-stranded RNA viruses) – rotavirus

Class IV: (single-stranded RNA viruses: positive sense) – coronavirus

Class V: (single-stranded RNA viruses: negative sense) – orthomyxoviridae

Class VI:( single-stranded retrovirus: positive sense) – HIV

2.  What other viruses are Class IV viruses? Name at least two.  (1 point)

Other Class IV viruses include Flaviviridae, Astroviridae, and Picornaviridae.

Coronaviruses

3.  Write a short paragraph about the history of coronaviruses from its discovery until 2021. 

The coronavirus gets its name from its appearance, this is because the spikes on its surface resembles the sun’s atmosphere called corona. For quite some time a variety of different corona viruses have affected many species. However, the first human coronaviruses were not discovered until the mid-1960s.  In 2003, a group of international researchers reported that the outbreak of severe acute respiratory syndrome (SARS) that occurred in China in late 2002 was caused by a new strand of human coronavirus. From 2004-2012 new strains of the virus start showing up across the globe. In 2020, a team in China discovers a disease outbreak known as SARS-CoV-2.

SARS-CoV-2 Genome and Structure

4.  What could be an advantage of being a virus with a genome that acts like mRNA? 

Being a virus with a genome that acts like mRNA has many advantages. They would have high mutation rates that would allow for fast evolution and shorter generation times.

5.  The virus does not have ribosomes.  How is the viral RNA going to be translated?

Since the virus does not have ribosomes, it must use the ribosomes of its host cell to translate the viral mRNA into viral proteins.

6.  What features on the genome are similar to eukaryotic mRNA? (1 point)

Covid has a positive-sense single-stranded genomic RNA. This makes its genome similar to eukaryotic mRNA because it contains a 5’ -cap and a 3’-poly(A) tail that acts as mRNA for the immediate translation of the viral polyproteins.

7.  The genome also contains 5’ and 3’ untranslated regions.  What does that mean? 

The genome containing 5’ and 3’ untranslated regions means that these regions play a role in the regulation of RNA replication and transcription.

8.  The term polycistronic was introduced in genetics when comparing the gene expression of prokaryotes and eukaryotes.  The SARS-CoV-2 genome is described as polycistronic.  Define the term polycistronic.

The term polycinstristic is used to describe a type of mRNA that can encode for more than one polypeptide separately within the same RNA molecule. 

9. What is an open reading frame? 

An open reading frame is defined as a portion of DNA that contains no stop codons after being translated into amino acids.

10.  What is a nonstructural protein? 

A nonstructural protein is a protein encoded by a virus but it is not included in the viral particle.

11. How many nonstructural proteins does SARS-CoV-2 make? 

SARS-CoV-2 makes two nonstructural proteins expressed as polyproteins.

12.  How does the polyprotein 1ab become separate proteins?

Polyprotein 1ab becomes separate proteins by using protease at certain cleavage sites.

13.  What are some of the roles for the nonstructural proteins?

Nonstructural proteins are likely necessary to achieve all replication and transcription processes. 

14. When we recently discussed transduction in class, we talked about the ability of a bacteriophage stopping its host cell from gene expression.  What SARS-CoV-2 nonstructural protein stops host gene expression?

The SARS-CoV-2 nonstructural protein that stops host gene expression is Nsp1.

15.  What is a structural protein?  How many structural proteins does SARS-CoV-2 have?

A structural protein is a protein that supports cell shape and movement. SARS-Co-V-2 has four structural proteins.

16. Refer to Figure 4 in the following article:  https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7194867/#:~:text=Coronaviruses%20(CoVs)%20are%20a%20group,as%20they%20harbor%20the%20viruses.

Name the structural proteins and describe where they are located in the virus.

The structural proteins are S-spike protein, M-membrane protein, N-nucleocapsid protein, and non structural proteins. The S-spike protein is the outer spiky glycoprotein, while the M-membrane is the transmembrane glycoprotein. The N-nucleocapsid protein is located within the phospholipid bilayer.

17. Referring back to the PDF entitled “A Structural View of SARS-CoV-2 Replication Machinery” (Figure 1), we see 9 accessory factor coding regions at the 3’ end of the genome.  Refer to https://virologyj.biomedcentral.com/articles/10.1186/s12985-020-01402-1, Background (Information), paragraph 5.  What is the role of accessory factors or accessory proteins?  In your answer, address how necessary they are for the virus.  (1 point)

The role of accessory factors/proteins is in viral spread or pathogenicity by modulating the host interferon signaling pathways.

SARS-CoV-2 Variants of Concern

Refer to:  https://www.cdc.gov/coronavirus/2019-ncov/science/science-briefs/scientific-brief-emerging-variants.html; scroll down to “Emerging Variants”

Three variants of concern are UK B.1.1.7, South Africa B.1.351, and Brazil P.1

18. What area of the genome has mutated for all three of these variants? Is this part of a nonstructural or a structural protein? 

The spike protein of all three of these variants is where the mutations occur. This is part of the structural proteins.

19. Why is a mutation in the above area so important? 

A mutation in the spike protein is important because it allows for increased transmissibility, the ability to evade detection and vaccine immunity, and severe/milder symptoms. 

HENRIETTA LACKS GROUP ASSIGNMENT

A. Does your group think that the Great Migration was necessary?  Is there a way it could have been   prevented?  Explain your answer.

Heather: I think it was necessary because the families really didn’t have a way to get out of debt without getting the money up front. I don’t believe that it could have been prevented as economics and nature are hard to predict. 

Acheena: Due to social and economic events at the time I don’t think  the great migration could have been prevented.

Sarah: I think the social tensions and discriminatory culture of those times made it hard for it to happen any other way, the combination of systemic racism and economic promises the industrialized cities seemed to offer made the Great Migration inevitable.

Raeghan: I think that the Great Migration was necessary, in order to  escape the oppressive economic conditions presented in the South. It probably could not have been prevented because families needed to advance in society and the plantation economy of the South could not provide that.

B.  Have you read a book (even a child’s book) which discusses a family returning to its roots after that family has participated in the Great Migration?

Heather: No.

Sarah: No I have not, but from what I’ve read from this book, it sounds like a rich history that should be given more relevancy given its significance in our country’s culture.

Acheena: yes, The Watsons Go to Birmingham is a book I read that talks about a family visiting down south after it had moved north the generation before.

Raeghan: I have not, but I would be interested in reading the book Acheena mentioned.

C. Question #11 asks how this ethical violation of sample collection has been corrected?  Do you think it has been corrected?

Heather: I don’t believe the problem has been resolved because tissues that have been “discarded” are still able to be used however the surgeon, doctor, nurse, etc. would like without having to tell the patient what they did or compensate them for anything that their tissues may have contributed. 

Acheena: I believe that the way informed consent is now required by federal law has corrected the issues raised in this question, however I do not believe that this change has made this right from an ethical standard point for the Lacks Family.

Sarah: I think the ways laws of changed as a result of the abuse of the Lacks family and many other people who were taken advantage of during this time period has been corrected ethically to an extent, but it still feels like the Lacks family should have some form of compensation or at least more current benefits as a result of Henrietta’s contribution.

Raeghan: I do not think that it has been corrected in the sense of repaying the Lacks family, but there are laws that prevent the situation from happening to that extent again.

D. What are types of cells are used for cell culture?  Do any other types of cells used for cell culture pose ethical issues?

Sarah: we use all sorts of cells from the body, muscle to liver cells, bacteria, protists, etc… What I’ve heard is the most controversial besides HeLa cells is that people often debate the ethics of using germ cells and stem cells, and even sperm and egg cells. 

Acheena: The field of medicine uses all types of cells and yes cells such as stem cells and those from aborted fetuses still raise ethical issues today.

Heather: Today all different types of cells are used. The most controversial cell types probably being stem cells as they are obtained from terminated pregnancies.

Raeghan: Primary cells are cells that are generally used in cell culture. Primary cells are cells that are taken  directly from living cells to be grown in vitro; cultures can be conducted from many different types of cells, as mentioned above.

E.  Comment on the ethics in #29.

Heather: It is unethical for a doctor to collect any kind of sample without informed consent. They had no idea why they were giving blood and to avoid telling the family, or at least make sure they understand what is going on, is wrong. 

Acheena: From an ethical standpoint patients should be informed of why a sample is being taken, give consent for the collection and consent for any testing or research performed on the sample collected.

Sarah: As far as ethics go, it was immoral to misdirect and misinform the Lacks family to get samples, and they should’ve been given an honest answer so that could give informed consent about the tests. Integrity should be an important quality of medical professionals. 

Raeghan: The use of HeLa cells is considered unethical because the harvest of the cells from Henrietta Lack was illegal. The family gave no consent to the use of these cells, and were even unaware of their usage in the medical field. At the time, the family received no recognition in the groundbreaking scientific discovery and it was wrong. 

F.  Chapter 24

Dr. George Gey probably didn’t make any money from HeLa cells, but much money has been made since they were cultured.  Yet, the Lacks family was very impoverished.  Comment on this dichotomy.

Heather: I can’t say that the Lacks family should have been compensated, but I do believe that with what happened, the family should at least receive full benefit of her contribution. What I mean by that is I believe that they should get things like free Gardasil shots and or free pap smears. 

Sarah: It’s a dilemma, because Dr. George Gey didn’t try to exploit the discovery for money, and the intentions of spreading these cultures didn’t seem ill-willed but rather out of a desire to vault medical science forward. It seems somewhat of an injustice how hard life was for the Lacks family and how much information was hidden from them despite the invasion of their own biological privacy. I think Heather’s idea of free vaccines and pap smears due to how monumental Henrietta’s cells’ impact was.

Acheena: I think it’s interesting that despite being worth billions of dollars the Lacks family never compensated. This is further complicated by today’s standards of voluntary participation in research which is often uncompensated.

Raeghan: If the foundation of HeLa cells was based around compensation, then I do believe that the family should have been compensated. However, since it was not money based, I do think that the Lacks family deserves recognition and ownership of the use of HeLa cells because they never had a say in how it was used, and technically the cells belong to them.

Chapter 1

Dr. Howard Jones was the gynecologist who examined Henrietta Lacks at Johns Hopkins. 

1.         Why is Dr. Howard Jones known, both worldwide, and in Norfolk?

Dr. Howard Jones was technically the first doctor to discover HeLa cells, as upon his examination of Henrietta’s cervix, discovered the abnormal tumor she had.

Chapter 2

Henrietta Lacks grew up in Clover, VA.  

2.         Looking at a Virginia map, what is the closest you’ve ever been to Clover, VA?

The closest I’ve been to Clover was like an hour away.

Henrietta Lack was part of the Great Migration when she moved to Baltimore.  

3.         Describe the Great Migration, and why it occurred.

The Great Migration was a point in time where farmers would travel to other areas to auction off their crops. They did this because they were desperate to earn money and selling in bulk was the best way to do this when families were struggling to pay their bills. 

Chapter 3

4.         What did Dr. TeLinde think about carcinoma in situ? 

Dr TeLinde believed that carcinoma in situ was an early stage of invasive carcinoma.

5.         How did Dr. TeLinde prove that he was correct?

Dr. TeLinde conducted a study at John Hopkins looking at the medical records and biopsies from patients diagnosed with cervical cancer within a ten year time span to find the percentage of them that had first been diagnosed with carcinoma in situ.

6.         Where did the name “Pap smear” come from? 

The name comes from Greek researcher George Papanicolaou who invented the testing method.

7.         What is a pathologist looking for in a Pap smear?

A pathologist is looking for changes in the cells of the cervix that often precede cancer.

8.         Comment on the transport of radium used to treat cancer.

A taxi cab was used to transport the radium used for treatment from a clinic across town. The radium was carried in brown doctor’s bags in glass tubes.

Dr. Wharton took samples from Henrietta Lacks and gave them to Dr. George Gey.  

9.         For what was this the eventual source?

Dr Gey and his team were collecting samples of tissue in hopes of growing malignant cells outside the body for cancer research.

10.       Discuss the major ethical violation in taking the sample.  

The major ethical violation was that informed consent for collecting the sample for research was never asked for or given.

11.       How has this ethical violation of sample collection been corrected?  Connect this to the Lacks family’s main complaint about the use of Henrietta Lacks’ cells.

Informed consent is now required by federal law and that is because the Lacks family’s main complaint is that they were never informed.

Chapter 4

12.       How were HeLa cells named?

HeLa cells got their name from how lab assistant Mary Kubicek labeled the first cultures of Henreitta’s cervical cells using her usual method, which was simply combining the first two and last two letters of the patient’s name together.

13.       Comment on the growth comparison between Henrietta Lack’s cervical carcinoma cells and her normal cells.

While Henrietta’s normal cells would die more or less a few days after being cultured, her cervix’s carcinoma cells thrived and multiplied rapidly in the cultures. According to Margaret Gey in the bookHeLa cells grew nearly 20 times faster than the normal cells.

Chapter 7

14-15.   Name at least two things that could be studied with HeLa cells.

  1. HeLa cells were particularly popular in cancer research, given how anomalous they were, and studying them gave great insight into how cancer worked at the time. 
  2. Since the cells ultimately produced an “immortal” tissue culture, HeLa cells could also be used to study aging in the human body and how to reduce traces of aging.

Chapter 8

16.       Why couldn’t Henrietta Lacks cells be cultured after she was hospitalized for pain?

Henrietta Lacks cells could not be cultured after she was hospitalized for pain because her body had become so contaminated with toxins that the cells would not grow and died once cultured. 

Chapter 13  

17.       Why is culturing cells, like HeLa cells, important for the field of virology?  

Culturing cells like HeLa cells is important for the field of virology because it offers a cost effective option to study the effects of new treatments on human cells. Also it helps to develop new tissues and study term effects of current treatments over time. 

Chapter 14

In 1953, the Minneapolis Star “leaked” the name Henrietta Lacks, but it was not correct (although nearly so).  

18.       What name did they publish?  

Helen Lane

19.       How did this mistake affect the Lacks family (i.e., what did it prevent them from knowing)? The name release invaded the Lacks’ privacy. They had no idea that her cells were alive. 

Chapter 17

20.       What was the Nuremberg Code?  

The Nuremberg Code was a list of recommendations for the ethics of human experimentation and treatment in scientific research. One concept that fell under this code was the idea of informed consent.

21.       How did Dr. Southam violate it, and how did Dr. Mandel propose to violate it?  Why was violation different from breaking the law?

  Dr. Southam violated the Nuremberg Code by injecting malignant cells into unknowing cancer patients without any form of informed consent. Many of the patients he used were not capable of proper consent because of underlying health issues as well. Violation was different from breaking the law, since violating the Nuremberg Code did not guarantee legal punishment and reprimanding.

22.       How could the Nuremberg Code be enforced?  

The Board of Regents and the Medical Grievance Committee played a key role in penalizing Southam for his Nuremberg  Code violations. This shows that enforcement can be successful by putting researchers under critical/peer review, and legal regulations on how experiments on human subjects are also a very good way to enforce this code.

23.       Why was the Nuremberg Code particularly “gray” for obtaining HeLa cells?

This seemed to be a moral grey area of research at the time, since during this time period there weren’t many protections for experiment subjects in the U.S. The Nuremberg code wasn’t widely applied in the medical field there, and even then the HeLa cell situation as well as Southam’s experiments were uncharted territory at the time for research ethics.

Chapter 18

The second cells deposited in the America Type Culture Collection (ATCC) were HeLa cells. 

24.       Go to the ATCC web site and look for the information that corresponds to Henrietta Lack’s information.

Chapter 22

25.       What is the difference between epidermoid and adenocarcinoma cancer?   Why is it important to know this  information?    

The difference between epidermoid and adenocarcinoma cancers is that epidermoid cancers develop from the epidermal cells and adenocarcinoma arise from glandular tissue. Knowing the difference between these two types of cancer is important because while the treatment remains the same adenocarcinoma is more aggressive than epidermoid cancer.

26.       What kind did Henrietta Lacks have?

Henrietta Lacks had adenocarcinoma despite having been originally diagnosed with epidermoid cancer.

27.       Why might it be easier for someone with cancer to be infected with syphilis?

It might be easier for someone with cancer to be infected with syphilis because cancer affects the immune response of the body and treatments often affect the efficiency of the immune system.

Chapter 23

28.       Why did Dr. McKusick’s lab obtain blood from the Lacks family?

To compare the family’s DNA with hers. At the time they were having a hard time trying to determine which cells were hers and which ones weren’t. They were looking for specific genetic markers. 

29.       Why did the Lacks family think they were drawing blood?

 They thought that they were being tested for cancer.

Chapter 25

30.       Do you think that a biological entity should be patented?  (Do not just say yes or no; offer an explanation for your answer.  There is no right or wrong answer!)

There is nothing wrong with patenting a biological entity in and of itself, since when someone works hard to develop something helpful or has a unique biological trait, it makes sense to want to profit off of it and be recognized. However, patenting is harmful when there is no transparency with the source of the biological entity. In the case of John Moore, the true flaw was that the research done on his cells was done without consent or transparency initially, and if there had safeguards put in place, Moore could’ve been involved in patenting his cells or forming a deal with Dr. Golde.

Chapter 27

31.       What infection probably caused Henrietta’s cervical carcinoma?

HPV probably caused Henrietta’s cervical carcinoma.

32.       What vaccine is currently being used to prevent this infection, and thus cervical carcinoma?

The vaccine that is currently being used to prevent infection with HPV is Gardasil.

33.       Describe the molecular basis of how this infection caused Henrietta’s cervical carcinoma.

HPV implements its own DNA into the DNA of the host cell; specifically, it would target the long arm of the 11th chromosome of the host cell in such a way that it would turn off the p53 tumor suppressor gene, causing cancerous cells to develop.

34.       What does telomerase do? 

Telomerase is an enzyme that repairs the telomere located at the ends of chromosomes.

35.       Comment on the presence of telomerase in HeLa cells.

The presence of telomerase in HeLa cells meant the cells could continuously repair their telomeres giving them the ability to divide indifferently.

Chapter 32

36.       Is Christoph Lengauer still a professor at Johns Hopkins?

Yes Christoph Lengauer is still at John Hopkins.

When Deborah and Zakariyya were looking at their mother’s cells, one of them was dividing. 

37.       Was it undergoing mitosis or meiosis?

 The cell was undergoing mitosis.

Chapter 33

38.       What was the Crownsville Hospital Center called in the 1950’s?

The former name of the Crownsville Hospital Center was “Hospital for the Negro Insane.”

39.       What type of research was done on patients at Crownsville during the 1950’s?

The records indicated that pneumoencephalography was conducted on live subjects at the hospital, most likely without any form of consent. It often resulted in long term side effects like seizures, vomiting, and crippling headaches. It also could cause permanent issues like brain damage and paralysis.

Photo Section (if your copy of the book has one)

          What do you find on the table that you should not find in a lab (today)? 

In the photo, they are not wearing gloves, have open containers of food and unlabeled vials and clutter all within their work space. All of these things are a violation of current OSHA laws.

ROMANOV GROUP ASSIGNMENT:

Group Members: Sarah Akulin, Heather Bolden, Raeghan Franklin, Acheena Blackson

Old Dominion University/BIOL294-Genetics/Rinehart-Kim/Romanov Project

History

1.         Nicholas II was the last Romanov to hold power in Russia.  What was his title?  

Nicholas II was Tsar of Russia. 

2.         How long had the Romanov family been in power in Russia?

The Romanov family were in power for 300 years.

3.         Politically, what happened to Nicholas II? 

Nicholas II abdicated his throne in 1917 before being later executed.

4.         Who took control after Nicholas II abdicated the throne?

The Russian Provisional Government headed by Georgy Lvov took control after Nicholas II abdicated.

5.         What happened to Nicholas II and his family after he abdicated the throne?

After leaving the throne Nicholas II and his family were imprisoned and eventually executed.

6.         One of the reasons that the family of Nicholas II was executed (vs. just imprisoned) was because there was a fear that the White Russian Army would save them.  Who was the White Russian Army?

The White Russian Army were anti-Bolshevik forces.

Hemophilia

The pedigree chart found at the end of this assignment comes from the Module powerpoint lecture notes.

7.         How was Nicholas II wife, Alix, related to Queen Victoria of England?

Alix was the granddaughter of Queen Victoria of England.

Both Queen Victoria and Alix are designated as being carriers for hemophilia. 

8.         In a couple of sentences, describe the physiology of the disease hemophilia. 

Hemophilia is a rare X-linked recessive disorder. In this disease the genes that control the production of either clotting factor VII or IX are missing or defective. When bleeding starts the blood vessel constricts, platelets clump to form a plug  and the blood begins releasing 13 different clotting factors. Although the coagulation process starts it cannot complete due to the missing factors all of which are needed to stabilize the platelet seal and stop bleeding,  therefore the platelet plug does not stabilize and bleeding continues over a period of time. 

9.         What does it mean to be a carrier for a disease?

When a person is a carrier for a disease it means that they have the genes that cause the disease but do not suffer from the disease itself.

10.       What type of hemophilia (A or B) is (probably) represented in the pedigree chart?

Hemophilia type B or factor IX deficiency is probably represented in the pedigree chart.

11.       On what chromosome is the gene that, when mutated, causes hemophilia?

The gene that when mutated causes hemophilia is located on the X chromosome.

12.       Describe the mutation (at the molecular level) that apparently caused hemophilia in Alix, (and probably all of the European families that   had hemophilia).  Be very specific.

A mutation that changes the GT sequencing to a TT within the splice junction of exon f is what probably caused the hemophilia in Alix. 

13.       How could the mutation you described in #12 result in a faulty gene product.  Be very specific in your description.

If the mutation described in #12 was not spliced properly it would result in a faulty gene product. The resulting protein would fold improperly and would lead to improper functioning.

14.       The Romanov’s son, Alexis, had hemophilia.  Describe how Alexis genetically acquired hemophilia.  (Use a         Punnett square.  You can either draw a table or line up the genotypes.)

Alexis’ mother was a carrier for hemophilia. Therefore, Alexis acquired the gene for Hemophilia from his mother.

15.       Using a Punnett square (again, draw a table or line up the genotypes), explain why only males in the pedigree       chart have hemophilia.  (Choose at least one of the males represented in the pedigree chart, and show his parents in the Punnett square.)

Only the males have this disease because they only carry one X chromosome and the women are only carriers. In order to have the disease all X chromosomes must be affected and for men it only takes one. 

16.       Is it possible for a female to inherit hemophilia, and, if so, how?  

While it is very rare it is possible for females to inherit hemophilia. That female would have to inherit an X chromosome that carried the mutation from both her mother and father. If the father is hemophiliac and the mother carries the gene for hemophilia then any daughter that they had would have a 1 in 4 chance of being hemophilic herself.

17.       Some historians speculate that Alexis’ hemophilia condition could have led to the Russian Revolution.  Explain.   

To prevent instability, the public was never told. Alix believed that Rasputin could heal him. She would allow no one but Rasputin to treat Alexis.  However Rasputin in turn  used his influence to sway the Tsar and Tsarina on royal matters  particularly when it came to WWI. As losses mounted the public became more unhappy and eventually revolted.

Molecular Analysis of People in a Mass Grave

18.       Two “graves” were discovered near Yekaterinburg, Russia.  Describe the number of bodies in each grave.

The first of the two graves held nine bodies, the second of which held two bodies.

19.       When were these graves discovered?

The grave that contained the nine bodies was found in 1991, the second grave was recently discovered in 2007.

20.       What type of testing was done to confirm sex and familial relationships among the remains found in the mass grave?

Nuclear DNA testing of five STR markers was done to confirm the relationship between remains in the mass grave.

21.       Genetically, what does STR “stand” for?  Be very specific in your answer.

Genetically speaking, STR stands for “ Short Tandem Repeats”. They are short tandemly repeated DNAn sequences that involve a repetitive unit.

22.       Mitochondrial DNA testing was also done on both Nicholas II and Alix.  Why was information from Alix’s, but  not Nicholas’ mitochondrial DNA used to identify three females as belonging to Alix?

Mitochondrial DNA is passed down to children strictly from the mother, therefore Nicholas II’s mitochondrial DNA would not have helped to identify the remains.

23.       HRH Prince Philip, the Duke of Edinburgh, provided mitochondrial DNA used to identify Alix and her three        daughters.  HRH Prince Philip, the Duke of Edinburgh, is married to Queen Elizabeth II of England.  Wait, isn’t       Queen Elizabeth II related to Queen Victoria?  So why was Prince Philip’s mitochondrial DNA used?

Prince Philip’s mitochondrial DNA is used because all of them shared a common maternal ancestor. This would mean that they would all share the same mitochondrial DNA, due to the fact that it is almost unchanged from mother to child.

24.  Who was missing from the mass grave (the one with the most skeletons)?

 Prince Alexis and one of his sisters were missing from the mass grave.

Molecular Analysis of People in a Mass Grave, cont.

25.       The Duke of Fife and Princess Xenia provided mitochondrial DNA used to identify Nicholas.  One of these is a    female and another is a male.  Does that matter?  What general statement can you make about their genetic relationship to Nicholas and Alexandra?  Are these people still living?

It does not matter that one is a male and the other is a female because the individuals are siblings and would both have the same maternal mitochondrial DNA as Nicholas. No, these people are not still living.

26.       What was discovered in the mitochondrial DNA of Nicholas that was not identified in either the Duke of Fife or Princess Xenia?

It was discovered in the mitochondrial DNA of Nicholas that was not identified in his siblings that the heteroplasmy at point 16169 differed in ratios. His brother had more T than C, while he had more C than T.

27.       What is the term given to the existence of two (or more) genetically different mitochondria in the cell?

Heteroplasmy is the name given when two or more genetically different mitochondria exist with the cell.

28.       What three types of DNA were used to test the remains found in a second grave?

Mitochondrial DNA (mtDNA), autosomal STR, and Y- STR testing were all used to test the remains of the second grave.

29.       Of the three types of DNA you listed in #28, which one would have been used specifically to identify Alexis?  

Y-STR testing on the skeletal material would have been used to specifically identify Alexis because it looks closely at markers on the Y chromosome

30.       What was the source of the DNA used to identify Alexis?

 Y-STR haplotype from femur of the male sample in the smaller grave.

31.       Was Anastasia in the grave in which Alexis was found?

It is unclear if the remains found in the grave with Alexis are those of Anastasis or those of  their sister Maria.

Who Wants to Be Anastasia?

Apparently, about 200 people have wanted to be Anastasia and have claimed to be her!  One of the most famous imposters was a woman named Anna Anderson (Manahan).

32.  Give a brief history (2-3 sentences) of Anna Anderson-both her claims and what is thought to be true.

Anna Anderson claimed to be the missing princess Anastasia. However, no one believed her and everyone thought that she was lying and was really Franzisca Schwanzkowska.

33.  Where in the US did Anna Anderson eventually settle?

Anna Anderson eventually settled in Charlottesville, Virginia.

34.    Whom did she eventually marry?

Anna Anderson eventually married John E. Manahan.

35.   What were the sources of Anna Andersons’s nuclear DNA?

The sources of Anna Anderson’s nuclear DNA were her hair and intestine.

36.   What were the sources of Nicholas’ and Alix’s nuclear DNA?

The sources of Nicholas’ and Akix’s nuclear DNA were their bones.

37. What type of analysis was done on DNA from Anna Anderson, Nicholas, and Alix?

Three types of analysis were performed on the DNA from Anna Anderson, Nicholas, and Alix: STR, mitochondrial analysis, and nuclear analysis.

38.   Anna Anderson’s mitochondrial DNA was compared to the mitochondrial DNA of what two people?

Anna Anderson’s mitochondrial DNA was compared to the mitochondrial DNA of Carl Maucher and the duke of Edinburgh.

39.  A hypervariable region of the mitochondrial DNA was analyzed.  Define a hypervariable region?

A hypervariable region of the mitochondrial DNA can be defined as a region of DNA that is subject to many changes.

40.       What were the conclusions from the mitochondrial DNA comparisons?

The conclusions from the mitochondrial DNA comparisons was that Anna Anderson was not related to the royal family, but she was Franzisca Schanzkowska.

41.       The article which describes the analysis of Anna Anderson’s DNA was published in 1995. 

  When were all of Nicholas’ and Alix’s children finally accounted for?

All of Nicholas’ and Alix’s children were finally accounted for in 2007.

42.       What did you learn from doing this assignment?  (Each person in a group should answer this question.  It is not a group answer.)

Raeghan: From doing this assignment, I have learned the relevance of mitochondrial DNA and how it is inherited and used to prove genetic relatedness to other people. 

Heather:  In doing this assignment I learned how mitochondria plays an important role in determining the family lineage. I also learned that hemophilia is typically only found in males and that both parents would need to have a marker to have the disease. I also learned that there are a number of different ways you can do DNA tests to prove whether two people are related. 

Sarah: From working on this assignment, I have learned some neat information about the Romanov family’s history and legacy. I also was able to observe how principles in genetics regarding alleles and testing on DNA can be applied to real life situations and issues. This was a fun case study.

Acheena:I learned that a lot of royal families are connected and how genetic diseases can play a part in history. I was familiar with hemophilia but I didn’t know that it was possible to type it after death.

WHILE THIS IS A GROUP PROJECT, EACH STUDENT SHOULD UNDERSTAND EACH QUESTION AND ANSWER GIVEN.  BY PLACING YOUR NAME BELOW (AND INCLUDING A DATE), YOU HAVE REVIEWED THE ANSWERS ON THIS ASSIGNMENT, AND AGREE TO THEM.  

Raeghan Franklin -April 23, 2021

Heather Bolden ~ 4/23/21

Sarah Akulin- 4/23/2021

Acheena Blackson 4/23/2021

Leave a Reply

Your email address will not be published. Required fields are marked *