Jun
2016
mutation story
Part 1 Alfi’s syndrome
I’m a gene locate in the ninth chromosome, during developing my protein has been missing. This proses had form alfi’s syndrome or it could also be called 9pminus syndrome which is me. In order to make things easier scientist called the part has been delete the “breakpoint”, the scientist are so rood right they changed my name to keep things easier. Whatever. I’m going to tell you something only at here, alfi’s syndrome is a very rare mutation, it only occurs in 1 in 50,000 births. Now do you see how rare I am.
The deletion could be a “terminal” deletion, a terminal deletion delete all the remaining genetic materials to the end of the chromosome is lost. there is another deletion that called “interstitial”, during this deletion genetic material will be lost whit in the chromosome. Alfi’s syndrome often occurs randomly, it have nothing to do with parents genes. And there is something that scientist creep me out. Somehow the scientist figure out that the bigger the deletion is the more symptom of the mutations will show. In order to find out this scientist need many people that carry alfi’s symptom, but alfi’s symptom is very rare where did the scientist find so many people with alfi’s symptom? People with me usually have hypertonia that is more pronounced and it will grow more as their age increase. It delays the growing of muscle
that will be effect sitting, crawling, walking, and swallowing. Highly flexible joints can be dislocation very easy.
Part2
1. What questions did I need to research in order to create my mutation story.
What is alfi’s syndrome
What is 9pminus
what does 9pminus do
how did alfi’s syndrome occurs
how did 9pminus occurs
how does 9pminus effect to body
2. what new or familiar digital tools did I try to use as I worked through this project?
I used google doc to type my story on at first because google doc have auto save and I can switch to other device very easy. And to avoid loosing the information I want from different site I take screenshot so I don’t get to loose the information.
3. What was the process I try used to investigate the topic?
however my mutation have two name I have to find out if they are the same mutation. Later on I look at many different sites and pick two sites that have most information to work on my story.
4.How did I verify and cite the information I found?
I tried to create a character that have personality like a gene inside body that doesn’t know anything. genes might not know what is going on with them so they are talking like innocent person.
5. How did the process of completing this challenge go? what could I have done better?
this is story making there aren’t many process to do. I could have done the explaining better cause I pertain I’m the gene so I think I didn’t explain it very clear.