Write 3 page essay on the topic Review on oculocutaneous.This disorder is thought to originate from mutations of over 16 genes, but so far, only four genes have been found to be directly responsible f

Write 3 page essay on the topic Review on oculocutaneous.

This disorder is thought to originate from mutations of over 16 genes, but so far, only four genes have been found to be directly responsible for it. These genes include OCA1 (TYR), OCA2, OCA3 (TYRP1) and OCA4 (Shaikh and Ahmed). however, it is also likely that, with time, more genes can be linked to this disorder.

According to the Human Gene Mutation Database, one gene out of the four genes allied to Oculocutaneous albinism, OCA 1 (TYR) is the one mostly responsible for the 450 gene sequence variations currently documented. This paper provides a review of Oculocutaneous albinism based on the research that was carried out with respect to a few key areas namely discussion, materials and methods, results and conclusion.

The study revealed seven different gene mutations, out of which three were allied to OCA1 in 10 Pakistani families. the pathogenic variants commonly associated with OCA1 in Pakistani households include P.Cys35Arg, P.Arg278 and P.Gly419Arg (Shaikh and Ahmed). OCA2 is more common in Pakistani because out of the forty families studied, fourteen families were found to have mutations in OCA2. Two pathogenic variations namely p.Cs35Arg and p.Tyr411 are sensitive to temperature changes because individuals homologous for this allele do not present with temperature-sensitive phenotypes. The effect of the hot local climate in Pakistan on melanocyte growth and melanogenesis in the skin implies that the loss of skin color in exposed and unexposed areas is the same. Inter-familial phenotype variation exists in families differentiating same alleles of TYR or OCA2 but there is no obvious genotype correlation thus only genetic tests can differentiate the type of albinisms. Sixteen families did not present with any symptoms for mutations in the protein coding. this could be attributed to the presence of crptic mutations, syndromic OCA or genes in which mutant alleles result in non-syndromic OCA.

For this research to be carried out, permission had to be granted