Oculocutaneous albinism (OCA) & Ocular albinism (OA)
& OCA type II (decreased amount of pigment; mostly among African descent)
-Ocular albinism (OA) = only affect eyes.
# WHAT HAPPENS TO THE BODY? #
#People with different types of albinism#
# Symptoms & Effects #
1) How common is albinism?
1/60000 males for OA
2) Specific locations for chromosomes?
4) Mutation? Caused by other factors?
OCA1: tyrosinase gene
OCA2: mutations cause the p protein not function
more than 80 mutations have been identified
eg. changes in single DNA building blocks and small deletions/ or complete genes deletion.
mutations in the GPR143 --> alter the size and the shape --> prevent the protein from reaching melanosomes.