Bloom Syndrome
Hello, my name is Bloom, I am a recessive genetic trait which means that I have been with my host since birth. My mutation is caused by an absence of the BLM protein which helps regulate sister chromatid exchanges, however, without this, the exchanges happen about 10 times higher than the average frequency of sister chromatid exchanged. This mutation causes chromosome breakage to happen more often to my host and my host’s cells are less able to repair any damages to the DNA that are caused by ultraviolet light.
My home is in chromosome band 26.1 of chromosome 15. My host has been small and underweight ever since birth, he is an Ashkenazi Jew with ancestors from Ukraine, which elevated his chances of having me since I am more common amongst people with ancestry like that. When my host goes out into the sun, I create a butterfly-shaped rash across their cheeks and nose because the host is now extremely sensitive to sunlight. Sometimes you can see little blood clots that I cause under the cheeks after my host is exposed to sunlight. I also increase my host’s chance of getting cancer by 100 to 300 more times than a regular person without the syndrome. There is no way to get rid of me or to prevent me, my host must live with me forever unless one day a cure or prevention is found.
I also increase my host’s chance of getting cancer by 100 to 300 more times than a regular person without the syndrome. The fat tissues in my host’s body become thinner and the chromosomes are highly unstable. My host, who is a male, can also have sterility. If my host were to be a female, I can cause infertility because I can make menstruation stop early. There is no way to get rid of me or to prevent me, my host must live with me forever unless one day a cure or prevention is found.
(From left to right) Butterfly-shaped rash after being exposed to sunlight. The location of BLM
What questions did you need to research in order to create your mutation story?
I researched many questions, such as “What is Bloom syndrome?” and “What effects does Bloom syndrome have?” I also searched the question “Are there any positive effects of Bloom syndrome,” in an attempt to try and find something good about the mutation instead of writing about only negative effects, however, I was not able to find any answers to that question.
What new or familiar digital tools did you try to use as you worked through this project?
I looked at Riverside’s database to try and get some information, Google search, and Google Scholar. Google Scholar was something new for me since I had never tried it before, I had only heard of it.
What was the process you used to investigate this topic? How did you verify and cite the information you found?
I started off with getting to know some basics about the syndrome, such as what a person with the syndrome would look like and major effects it would have on a person who carries the disorder. Then, I would research further and double check information that I find by going onto multiple websites to see if the same information would be there. I cited the sites I got information from below and linked them.
How did the process of completing this challenge go? What could you have done better?
This challenge was more difficult than I thought it would be. It was slightly difficult to find what caused the mutation at first, but all I had to do was be more careful when I was reading instead of skimming through. I think I could’ve researched even more and add more of a journey-like plot to the story to make it interesting for the reader.
Sources:
(U.S. National Library of Medicine, 2016) (University of Washington, 2016) (NORD, 2016)