Albinism: a genetic and social interpretationIntroductionThe effects of albinism have profound phenotypic distinctions that visibly define between those who are affected and those who are not. However, it is the cultural beliefs and social stigmas surrounding albinism that have drawn attention to the mutation in recent media. Ostracism, rape and murder of albinos have steadily increased over the years on the southern African continent. It is because of the myths, beliefs and misunderstandings about the condition that have given way to stigmas surrounding the condition. Although albinism is actually the result of six different mutated genes, the six mutated genes contribute to various types of albinism, the most common observed primarily in mutation of tyrosinase-type genes. Background There are two types of melanin: eumelanin which contributes to albinism brown/black pigmentation and pheomelanin which is the source of yellow/red pigmentation. Both of these melanins depend on sulfur content and the variations between these melanins are variable depending on the synthesis of melanosomes. Melanosomes are important because they are synthesized within melanocytes. Melanocytes are the primary cells that contribute to the development of melanin which is ultimately responsible for pigmentation 3. Next we will look at two different methods used to evaluate the effects of melanocytes in the human genetic makeup, the methods generally involve the use of a statistical method study that includes various participants, and others test individuals who are known to have the recessive albino gene, while other methods choose to interview those living with albinism. Types of Albinism Albinism has six variants, oculocutaneous... middle of paper... ...gene ion.1” It is affected in the genomic DNA region “15q11.2-q12” and is said to have 72 mutations. OCA2 is actually a protein that, similarly to OCA1, contains transmembrane “integral melanosomal protein”. 2” Normally, the OCA 2 process would transport melanosomal protein such as tyrosinase to melansomes, however due to mutations, there is mislocalization and does not transfer 2. OCA3 albinism is mainly affected by tyrosinase-related protein 1 or TYRP1. Interestingly, they have been shown to stabilize the activity of tyrosinase and DOPAchrome. Bibliography Oetting, King and Richard William. "Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism". Human mutation. 13. (1999): 99-115 http://www.ncbi.nlm.nih.gov/pubmed/10094567 (accessed February). 20, 2012).