Science 9

Mutation Story

January 9, 2018

Mutation Story (Albinism; OCA)

By: Nana Okamoto

 

Part 1: Mutation Story

Questions Answered in the Story;

  1. What happened to you as a gene?
  2. What caused your mutation?
  3. What effects did the gene mutation have on your host’s body?
  4. How was the host’s life affected? What was their story?

 

Hello, my name is Kanako, and I am a mutated gene that affects the production of a pigment called melanin. In albinism, there are two most common types, and in this case my host (whose name is Raj by the way,) has OCA1 (or oculocutaneous type 1). Inside of the body there are cells called the melanocyte that are responsible for giving skin, hair and eyes the colour that it has. But when you have albinism, the melanocytes exist, but the mutations interfere with their ability to send it off.

Raj likes going outside, getting fresh air and all that loveliness, hanging out with friends and playing the trumpet. He wants to one day be part of an orchestra, but my host has poor vision, and has extremely sensitive skin, which makes him vulnerable to a higher chance of getting skin cancer. Raj has very pale skin, almost white, and hair to match, and no pigment in his eyes. His irises are pinkish, and his pupils are red. Normally the pupil (of other kids who don’t suffer from albinism) appears to be black because the molecules absorb the light that enters the eye, stopping it from bouncing back out.

My host is legally blind, but he can see nonetheless. One day he might get skin cancer, or he might not, depending whether he takes care of himself well; using sunscreen regularly and covering himself completely when going outside on a sunny day.

 

Part 2: The Making of Mutation Story

  1. What questions did you need to research in order to create your mutation story?
    • What causes Albinism? (gene wise, mutation)
    • Is it harmful? Positive? Neutral?
    • What exactly is Albinism?
  2. What new or familiar digital tools did you try to use as you worked through this project?
    1. EasyBib – to cite my sources
    2. Google – for research
  3. What was the process you used to investigate the topic?

Doing research (what is Albinism, causes, symptoms, etc.), then using Easybib to cite the information that I got.

  1. How did you verify and cite the information you found?
    • By using Easybib

 

Just by convenience, here’s the Bibliography;

“Oculocutaneous Albinism – Genetics Home Reference.” U.S. National Library of Medicine, National Institutes of Health, ghr.nlm.nih.gov/condition/oculocutaneous-albinism.

“Spotlight.” Information Bulletin – What Is Albinism? – NOAH – Albinism, www.albinism.org/site/c.flKYIdOUIhJ4H/b.9253761/k.24EE/Information_Bulletin__What_is_Albinism.htm.

“Albinism.” Genetic and Rare Diseases Information Center, U.S. Department of Health and Human Services, rarediseases.info.nih.gov/diseases/5768/albinism.

AboutKidsHealth, and about.kidshealth@sickkids.ca. “Albinism and Genetics.”AboutKidsHealth, AboutKidsHealth, 12 June 2012, www.aboutkidshealth.ca/En/HealthAZ/ConditionsandDiseases/GeneticDisorders/Pages/Albinism-and-Genetics.aspx.

Understanding Genetics, genetics.thetech.org/ask-a-geneticist/odds-child-albinism.

  1. How did the process of completing this challenge go? What could you have done better?

I could’ve been more organized and gotten my work done earlier, but I got confused about the deadline and the final work was a bit rushed.

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