First of all, I know that OCA1 (Oculocutaneous Albinism Type 1) is autosomal recessive which means that both parents-who are unaffected-have to pass down one copy of a mutated gene in order to activate the mutation (in this case it is Albinism). Based on the following link, "TYR (The TYR gene provides instructions for making an enzyme called tyrosinase. This enzyme is located in melanocytes, which are specialized cells that produce a pigment called melanin) is the only gene in which mutations are known to cause oculocutaneous albinism type 1." Also, there is a table on the website but it does not justify the exact point mutation that causes OCA1...unless I'm wrong.

----> http://www.ncbi.nlm.nih.gov/books/NBK1166/

What type of point mutation and chromosomal mutation?

Point Mutations: http://www.britannica.com/science/point-mutation

Chromosomal Mutations: There is good insight on Chromosomal mutations at http://biology.about.com/od/genetics/ss/chromosome-mutation.htm

I would really like help, this information is for my biology project!

  • $\begingroup$ I suspect albinism in general due to pigment deficiency is due to polygenic(quantitative) inheritance, that is to say, recessive for all three (?) pigmentation determining genes. Not really a point mutation. However, PKU, as it is due to tyrosinase deficiency, also causes albinism. $\endgroup$ – Tamoghna Chowdhury Feb 14 '16 at 12:50

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