Romanov 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.