Genetic Assignment

  1. Who were the Romanov’s (in Russian history)?

The Romanov’s were rulers in Russia who ruled the country from 1613- February of 1917. These was the last imperial dynasty to rule Russia. In 1918 The last of the Romanov’s were executed by Bolshevik troops.

2. Briefly outline the Romanov lineage.

The linage of rulers began with Michael Romanov starting the pattern of succession passing the tsar title to his eldest son Alexis. It was passed down from son to son until Peter and Ivan V who ruled jointed due to opposing powers. As time moved on Ivan died and peter created the new rule of choosing a successor and made the tsar known as emperor. On his death he chooses Catherine I his wife to rule. Then Paul I son of Catherine and Peter III created the law of succession which established a definite order of succession for members of the Romanov. He was then killed and replaced by Alexander I, his son. Alexanders brother Constantine declined the throne, and Nicholas I was the next ruler.

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

Nicholas II was known as the last Russian Emperor and Autocrat of all the Russians.


4. What happened to Nicholas II?  Why (from a geopolitical view)?  Who then took control?

Nicholas II was executed in 1917 by the Bolsheviks. Beforehand he took control of the Russian army and made poor decisions that lead to bad relations between the government and the people. He refused any reduction in the absolute power he held. After he had an uprising of Russian workers it hastened the fall of the empire.

died Vladimir Lenin took new control and lead Russia into a Marxist government.
5. Describe the family of Nicholas II.  What happened to them?

The family took power and was viewed as politically week due to the little training and stubbornness. Nicholas married the princess Alix of Hesse. They had 4 daughters and a son including the famous daughter Anastasia. Alix disliked most Russians except the “holy man” Rasputin. Alexei their son suffered from extreme hemophilia and often bed ridden. Rasputin used this to his advantage and influenced the ruling family infuriating many others. Eventually a civil wore broke out and the family was assassinated July 16, 1991.

Part II:  Hemophilia
6. How was Nicholas II wife, Alix, related to Queen Victoria of England?
Both Queen Victoria and Alix are designated as being carriers for hemophilia. 

She was related to queen Victoria by being a granddaughter.
7. In a couple of sentences, describe the disease hemophilia.
Use the following source for the questions 8 & 10:  http://www.ncbi.nlm.nih.gov/pubmed/20557352 (You won’t be able to
access the entire article, but the abstract will give you the information you need to answer the questions.)


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

Hemophilia B is represented in pedigree chart.
9. 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.)

 XY
X^hX^hXX^hY
XXXXY

Alexis acquired Hemophilia due to his mother being a heterozygous carrier for it and him only having a 50/50 chance of not receiving the X chromosome that had it.
10. Using a Punnett square (again, draw a table or line up the genotypes), explain why only males in the pedigree chart have hemophilia.

 XY
X^hX^hXX^hY
XXXXY

Only the men suffered from hemophilia due to their lack of a second X chromosome. They could also not receive hemophilia due to the females being heterozygous such as Leopold and Helene kids.


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

A female is capable of inheriting hemophilia but can never suffer from it unless the mother is homozygous.


12. None of Alexis’ sisters are shown to have hemophilia.  Using only the tools available at the time they lived, how could it have been determined whether they were carriers like their mother. 

In early 1900’s to see if someone was a carrier they could have done a punnet square, Had a male child, or tested the blood.


13. Using a Punnett square (again, draw a table or line up the genotypes), what is the probability the daughter of a mother who is a carrier and a father who does not have the disease, will be a carrier?

 XY
X^hX^hXX^hY
XXXXY

The daughter will always have a 1 and 2 or 50% chance of becoming a heterozygous carrier
14. Using a Punnett square (again, draw a table or line up the genotypes), what is the probability that 4 daughters of a mother who is a carrier and a father who does not have the disease, will be a carrier?

 XY
X^hX^hXX^hY
XXXXY

Each daughter will have a 1 and 2 or 50% chance of becoming a heterozygous carrier no matter the number of children.

15. Using a Punnett square (again, draw a table or line up the genotypes), explain why none of Alexi’s sisters had hemophilia.

 XY
X^hX^hXX^hY
XXXXY

Each of his sisters were not a carrier because they managed to roll the genetic dice and not receive the trait to become a heterozygous female carrier for hemophilia. Each daughter had a 50% chance and all of his sisters managed to avoid that gene.
16. Some historians speculate that Alexis’ hemophilia condition could have led to the Russian Revolution.  Explain. You probably want to look up the faith healer Rasputin.

Rasputin involved himself into the government circle through giving advice to Alexi such as rest and prayers for him. Through his manipulation of their beliefs, he was able to influence the family and the power of the tsar. The people disliked this, so they assassinated him and overthrew the Romanov family.

Part II:  Hemophilia

The pedigree chart below comes from the Module powerpoint lecture notes.

Use the following source for the questions 2:  http://www.ncbi.nlm.nih.gov/pubmed/20557352 (You won’t be able to access the entire article, but the abstract will give you the information you need to answer the questions.)

  1. Using your knowledge from Module 4, on what chromosome is the gene that causes hemophilia?

The gene that causes hemophilia is located on the X chromosome. Meaning it is an X-linked genetic disorder normally mutating the F8 or F9 gene which produce clotting agents in the body.

  • Describe the mutation that apparently caused hemophilia in Alix, (and probably all of the European families that had hemophilia).

The mutation responsible for hemophilia in Alix and other European families is a deletion or rearrangement of part of the F8 or F9 gene, it resulted in a reduction of functional factor VIII or XI protein.

  • Using your knowledge from Module 7, describe how the mutation you described in #10 could result in a faulty gene product.

The lack of a second X chromosome in males and the heterozygous state of females are the reasons for the inheritance pattern of hemophilia in this family. The females inherited one normal X chromosome from their mother and one X chromosome carrying the hemophilia gene from their father, making them carriers of the disorder whereas males can inherit it from the mother very easily.

  • Again, using your knowledge from Module 4, give the genotype for a carrier of hemophilia.

      X^h      X                                       The specific genotype for a carrier of hemophilia is X^hX and are normally.

Female due to men only having one X chromosome.

X    XhX  XX

Y     XY   XY

Part III:  Molecular Analysis of People in a Mass Grave

Use the following source to help you answer the following questions:  http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0004838 (You should be able to access the entire article.)

  • 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?

The difference between Nicholas II and Alix, their mitochondrial DNA would have been different because they had different mothers. Therefore, any offspring that Alix had would inherit her mtDNA, while any offspring that Nicholas had would not. This is because mtDNA is a type of DNA that is inherited only from the mother, as it is passed down through the cytoplasm of the egg cell.

6.           HRH Prince Philip, the Duke of Edinburgh, provided mitochondrial DNA used to identify Alix and her three             daughters.

              Why was his mitochondrial DNA used?

              Who was the HRH Prince Philip, the Duke of Edinburgh in today’s world?  Do you ever hear of his grandchildren     (in magazines while you are waiting to check out of a store)?

HRH Prince Philips mtDNA was used to identify living maternal relatives of Nicholas II and Alexandra. HRH Prince Philip was husband to Queen Elizabeth II. His grandchildren were Prince William and Prince Harry who have been in the media for their decision to leave their public profile and royal duties.

  • Who was missing from the mass grave?

Two members of the Romanov family were not present in the grave. Alexei, the youngest son of Nicholas II, and one of his daughters, either Anastasia in 1991 but was later found in 2007 that Alexei and one of his sisters were there. So only one sister is still missing.

8.           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.

The fact that one individual was male while the other was female doesn’t matter. mtDNA sequence remains the same for all maternal relatives in line of decent. Due to the test it can be concluded that through the genetic relationship between Nicholas and the individuals that have provided the mtDNA are maternal relatives.

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

A mutation was discovered that was not identified in the mtDNA of either the Duke of Fife or Princess XeniaThis mutation was a deletion of 2 nucleotides.

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

The term given to the existence of two (or more) genetically different mitochondria in the cell is heteroplasmy.

You may use various Internet sources to answer any of the questions, but please cite any sources that you use if they are not ones that I suggest. 

Part III:  Molecular Analysis of People in a Mass Grave

Use the following source to help you answer the following questions:  http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0004838 (You should be able to access the entire article.)

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

The first grave that was discovered contained 9 of the 11 bodies while the second grave held 2.

  • When were these graves discovered?

Both graves were found in July of 1991.

  • One of the reasons that the family of Nicholas II was executed was because there was a fear that the White        Russian Army would save them.  Who was the White Russian Army?

The White Russian Army was a counter revolutionary force opposing the Bolsheviks during 1917-1922. They had their title as the White Russian Army due to them fighting for the old flag which was white.

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

The testing conducted on the remains in the graves found were DNA tests, dental analysis, and anthropological analyses.

  • Genetically, what does STR “stand” for?

STR: Short tandem repeat. STR is a type of DNA sequende that is repeated multiple times in a row.

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

3 types of DNA that was used to test the remains in the second grave were mtDNA, auDNA, and Y-DNA.

  • Of the three types of DNA you listed in #32, which one would have been used specifically to identify Alexis? 

Out of the three DNA’s listed I would have used the Y-DNA to test on Alexis, because he was a male the Y-DNA should be present from father to son.

  • What was the source of the DNA used to identify Alexis?

The source of the DNA used to identify alexis was his living relatives.

  • Was Anastasia in the grave in which Alexis was found?

Anastasia was not in the same grave as alexis.

Part IV:  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).

Refer to the following source to help you answer some of the following questions:  http://www.nature.com.proxy.lib.odu.edu/ng/journal/v9/n1/pdf/ng0195-9.pdf  (Please note that this is a PDF of the article and is provided via the ODU Library.)

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

The youngest daughter of Tsar Nicholas II of Russia, Grand Duchess Anastasia, allegedly escaped the killing of her family and was a lady by the name of Anna Anderson. Even though many people denied her identification, she won support when she initially asserted her claim in 1920. DNA testing was done after her death in 1984, and the results indicated that she was not connected to the Romanovs.

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

Anderson eventually settled in Charlottesville, Virginia.

  1. Whom did she eventually marry?

Anderson married a man named Jack Manahan in 1958 who was a history professor.

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

Andersons nuclear DNA were sampled from her hairbrush and a biopsy of her intestines.

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

Nicholas and Alix nuclear DNA came from their bones which were found in a mass grave in Yekaterinburg.

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

mtDNA analysis were done om the DNA of Anderson, Nicholas, and Alix

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

Andersons mtDNA analysis was compared to that of Prince Philips and his living great nephew of Alexandra, Prince Michael of Kent

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

Hypervariable region is known as a part of the mitochondrial genome that significantly varies between each individual and is useful for the genetic difference and relationship.

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

The conclusion from mtDNA comparisons were that Anderson’s mtDNA did not match either prince Philips or prince Michael. This showed that she was not related to the Romanovs through maternal line.

  1. 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 Nicholas and Alexandra children were accounted for in 2007 when both alexei and Anastasia were discovered in separate graves.

Part V:  Current Hemophilia Treatment

  • Descibe a current treatment for hemophilia.

              Current treatment is found is replacement therapy, in which the missing clotting factor is replaced with a synthetic version of the factor. Depending on the severity of the ailment, intravenous infusions are often used to do this. They are given on a regular basis. Two forms of replacement therapy treatments are plasma-derived and recombinant. Recombinant treatments are generated utilizing genetically modified cells to make a synthetic form of the clotting factor, as opposed to plasma-derived therapies, which are made from donated human blood plasma.

Writing Assignment 5

Jo Cohen

3/24/2023

Genetics

Writing Assignment 5

            I discovered a story that appeared in U.S. News. The subject of gender determination is covered. A recent contentious finding suggests that fertility therapies might be able to choose the child’s sex. They have discovered that sorting sperm is fairly easy thanks to this study. Based on the weight of the sperm cells, the process is carried out. Sperms with the X chromosome have been observed to travel more slowly and weigh more. Y-chromosome-containing sperm are lighter and more flexible.

Dr. Gianpiero Palermo explained that they would let the two kinds of sperm swim through a dense medium and observe which sperm rose to the top and which sperm fell to the bottom to separate them. In order to fertilize the egg, the study team would then choose a sperm and place it right into the egg’s center. Intracytoplasmic sperm injection is what is done in this situation. (ICSI). The fetus was subsequently subjected to genetic testing to look for any chromosomal or sex anomalies.

The researchers concluded that the sorting method had no negative effects on the sperm in this investigation. According to Dr. Palermo, the child’s health was unaffected and there were no cognitive delays during its first three years of life. The piece explains in detail the numerous uncontroversial reasons why a family might choose to use this procedure on their own. Not passing on inherited diseases was the greatest illustration offered. They stated that by doing this, diseases like hemophilia can be prevented. Additionally, it can be used to maintain a household balance between genders.

In conclusion, of the majority of participants in the experiment, 79% of those who desired a female child got one, while 80% of those who wanted a male child got a boy. The main distinction between density gradients and other established techniques is that sperm cells are further divided by their X and Y chromosomes. Families are now able to organize themselves and become more nuclear. Although this is a very slippery slope, in the view of many scientists. This route is risky primarily because it may result in partners choosing traits, gender, height, strength, etc. With that an unbalanced gender number can lead to an imbalance in society and this change may become a serious problem.

References

Mann, D. (2023, March 22). New Technique 80% Effective in Selecting a Baby’s

Gender. https://www.usnews.com/news/health-news/articles/2023-03-22/new-technique-80-effective-in-selecting-a-babys-gender