Genetics Romanov assignment
History
- Nicholas II was the last Romanov to hold power in Russia. What was his title?
Emperor and autocrat of all Russians.
- How long had the Romanov family been in power in Russia?
300 years
- Nicholas II abdicated the throne. Who took power then?
His brother grand duke Michael Alexandrovich
- What happened to Nicholas II and his family after he abdicated the throne?
They were murdered
- 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?
A group in the Russian civil war that fought against communist views.
6. How was Alix, the wife of Nicholas II, related to Queen Victoria of England? (Look at the pedigree chart carefully.)
She was his second cousin!
7. On what chromosome is the gene that, when mutated, causes hemophilia and how does this contribute to its inheritance pattern?
It is a x linked recessive mutation that causes a horizontal infection pattern that can affect both men and women.
8. What does it mean to be a carrier for a disease?
It means that you can transfer the disease to your children but you do not show all of the symptoms of having the disease.
9. Why aren’t males considered carriers for hemophilia?
Because males only have one x chromosome so if that chromosome is infected then they will show infected for hemophilia.
10. In a couple of sentences, describe the physiology of the disease hemophilia. (Yes, I know it is severe bleeding because the blood cannot clot. But WHY can’t the blood clot? Be very specific.)
hemophilia is a hereditary blood disorder that does not allow blood to clot. It does this because it does not code for the blood clotting factors that allow blood to clot and stop bleeds. This can result in excessive internal or external bleeding during injuries. Hemophilia A is a result of low levels of factor 8 while hemophilia B is low levels of factor 9. Both being on the X chromosomes, making it a sex-linked recessive disorder.
11. What type of hemophilia (A or B) is (probably) represented in the pedigree chart?
hemophilia b
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.
the mutation was a substitution on the splice acceptor site of exon 4 in the F9 gene.
13. How could the mutation you described in #12 result in a faulty gene product? Be very specific in your description.
A substitution mutation can result in a change in the coding for the Amino acid or a stop codon that will then effect the protein being made. In this case the protein for blood clotting.
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.)
because his mother was a carrier
| X^H | Y | |
| X^H | X^H X^H | X^H Y |
| X^h | X^h X^h | X^h Y |
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 males in this chart have hemophilia because it is a X linked disorder and men only have one x chromosome. As hemophilia is recessive and females would have to have both x chromosomes be recessive in order for them to be infected while only one would make them a carrier.
| X^H | Y | |
| X^H | X^H X^H | X^H Y |
| X^h | X^h X^h | X^h Y |
16. Is it possible for a female to inherit hemophilia, and, if so, how? Yes however it is rare as it is a x linked trait. In order for a female to inherit hemophilia the mother would have to be a carrier or infected, and the father would have to be infected. Resulting in both x chromosomes being infected.
17. Some historians speculate that Alexis’ hemophilia condition could have led to the Russian Revolution. Explain.
This is because he had a sick son Alexis who needed a doctor or “faith healer” who used his connections to influence government affairs. He was a catalyst to the revolution as he used his position in his own self-interest.
18. Two “graves” were discovered near Yekaterinburg, Russia. Describe the number of bodies in each grave.
A mass grave was discovered at Ekaterinburg and contained the remains of nine bodies and two of the children were in another grave.
19. When were these graves discovered?
The official discovery was in 1991.
20. What type of testing was done to confirm sex and familial relationships among the remains found in the mass grave?
DNA testing was done form the bone profiles on the remains and blood samples from living relatives to confirm the remains were from Romanov family.
21. Genetically, what does STR “stand” for? Be very specific in your answer.
Short tandem repeat analysis is a informative approach to genetic identificiation.
22. 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? (To help you answer this question, look at the second pedigree chart.)
It is because they all share a common maternal ancestor.
23. Who was missing from the mass grave (the one with the most skeletons)
Tsarevich alexei
24. 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.
Yes it was important in discovering the identity of the unknown. It matters as hemophilia is more common in males and the history of inbreeding in the family tree.
relationship to Nicholas and Alexandra? Are these people still living?
25. What was discovered in the mitochondrial DNA of Nicholas that was not identified in either the Duke of Fife or Princess Xenia?
They found a “single point heteroplasmy” that differs from the Duke of Fife and Princess Xenia. Located at position 16169(C/T= “Y”)
26. What is the term given to the existence of two (or more) genetically different mitochondria in the cell?
Heteroplasmy
27. 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.
28. Of the three types of DNA you listed in #28, which one would have been used specifically to identify Alexis?
Y-STR testing to find an exact match with his relatives.
29. What was the source of the DNA used to identify Alexis?
the source was a femur fragment.
30. Was Anastasia in the grave in which Alexis was found?
No, she was buried with the other sisters in the grave with nine bodies.
31. Give a brief history (2-3 sentences) of Anna Anderson-both her claims and what is thought to be true. Anna Anderson claimed she was Anastasia and was found to be an imposter through DNA testing.
32. Where in the US did Anna Anderson eventually settle and why?
Charlottsville, Virginia. Due to medical reasons.
33. What were the sources of Anna Andersons’s nuclear DNA?
Hair and intestine samples.
34. What were the sources of Nicholas’ and Alix’s nuclear DNA?
Skeletal bone samples.
35. What type of analysis was done on DNA from Anna Anderson, Nicholas, and Alix?
Both mtDNA and STR analysis.
36. Anna Anderson’s mitochondrial DNA was compared to the mitochondrial DNA of what two “other” people?
Carl Maucher and Duke of Edinburgh ( the nephew of tsarina)
37. A hypervariable region of the mitochondrial DNA was analyzed. Define a hypervariable region. A hypervariable region is one that has a high ratio of different amino acids in a given position, relative to the most common amino acid in that position.
38. What were the conclusions from the mitochondrial DNA comparisons?
That Anna Anderson was not related to Anastasia and that she was a imposter.
39. 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 accounted for by 2007 but it is not for sure which remains belong to Anastasia or Maria.
40. What did you learn from doing this assignment?
I learned a lot about Russian history and how genetics can be used to find answers to real world mysteries. How different DNA samples from different locations on the body, or from the cell, and tests can confirm someone’s identity even if there is only bones remains left after several years.