Part 1
- Q: What happened to you as a gene?
A: As a gene, I had a happy life in a cell. Then, things got complicated. There were 46 chromosomes in total. As we know, DNA must replicate itself as our host’s body continuously needs new cells. During replication, double stranded DNA are separated resulting in each new strand becoming another double strand. Well, along the way, there was a deletion while replication occurred which changed the number of DNA bases. This altered the function of the resulting proteins. That rare mistake happened to happen on a chromosome that contained me. The chromosomal deletion occurred as a randomized event during the formation of the reproductive cell I was in. After the mating occurred, the sex cell I was in containing the faulty chromosome affected the birth of my host.
- Q: What caused your mutation?
A: My life stood inside “Chromosome Number 5 (5p)”. It was one of the 23 pairs of chromosomes in a human and represented almost 6% of the total DNA in cells. As I lived my happy life, things got complicated. Parts of the chromosome’s short arm started disappearing. I’d say about 10-20% of the material on the short arm was deleted. This resulted in many of the genes inside this chromosome to be deleted. The losses of a small region in band 5p15.2 and 5p15.3 are what caused the symptoms and effects on the host. Humans call it “the mutation”. They call this mutation “Cri Du Chat”. It affects an estimate 1 of 50 000 births and is more common in females.
- Q: What effects did the gene mutation have on your host’s body
A: Well, this is a very touchy subject for me, but I will try to explain all the effects I have witnessed on Bob, my dear host.
These are the effects =
-Cries similar to of a cat by affected infants (due to problem with larynx and nervous system)
-Difficulty swallowing and sucking
-Low birth weight and poor growth
-Severe cognitive, speech, and motor delays
-Problems with behaviour (hyperactivity, aggression, tantrums, repetitive movements, etc)
-Strange facial features (that can change over time)
-Lots of drooling
-Small head and jaw
-Wide eyes
-Skin tags in front of eyes
- Q: How was the host’s life affected? What was their story?
A: Well for Bob, my host, the symptoms mentioned above had a significant affect on his life. Because of his difference, he had to go through genetic counseling and testing. The host also had to receive treatment from a speech, physical, and occupational therapist as the mutation effects were negative. Furthermore, Bob got bullied a lot as a kid. Just because he was “different”, he was outright judged as an outcast and a nobody. Nobody wanted to be friends with him or even be close to him. This led to him facing some very disturbing thoughts. Oh poor him! Each and every human should be treated equally the same. There is no excuse for bullying. That was what I learnt after seeing what my special host went through because of me.
Part 2
Ask
-What happened to the gene?
-What caused the mutation?
-What effects does the gene mutation have on a body?
-How may have someone’s life be affected by this mutation?
-What is chromosome 5p?
-What is genetic mutation?
-How does genetic mutation occur
-How does a genetic mutation deletion work?
-How was this disorder discovered?
Acquire
In this project, I used lots of digital tools to get all of my facts and organize it all. Firstly, I used Wikipedia to get some of my facts. Some people might think Wikipedia is unreliable but if you look at the bottom of the website, the citations are clearly there. Then, I used other sites to verify the info I got from Wikipedia and improvised it (citation below). Digital tools like google images also helped me get all my media contents. I also used Word 2016 to organize everything and my laptop to write and research. Then, I used the Edublog to publish my work.
Analyze
Sources =
https://en.wikipedia.org/wiki/Cri_du_chat
https://en.wikipedia.org/wiki/Chromosome_5_(human)
http://science.howstuffworks.com/life/genetic/dna-mutation.htm
https://en.wikipedia.org/wiki/Deletion_(genetics)
https://www.genome.gov/19517558/learning-about-cri-du-chat/
https://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome
Assess
Overall, I think the project went well and that I learned a lot about mutation throughout the time
I was researching. I liked how we were able to choose the genetic mutation we ourselves wanted
to research. This allowed me to be entertained and want to know more while searching up
information. Even though I believe most things went well, I do believe improvements could have
been made. I could have done more research and compare this mutation with other mutations and
how it differs. Another thing I could have done to improve was to actually create a PowerPoint
with much more info on the whole genetic mutation process and have lots of more media content
so that I wouldn’t bore the reader. In conclusion, this project served to me as a great opportunity
to study and improve my knowledge on mutation.