Background & Aims: Tyrosinase is the most important enzyme in the production of pigments of the skin, eyes, and hair follicles. The enzyme is encoded by tyrosinase gene (TYR) or oculocutaneous albinism type 1A (OCA1A). Mutations in TYR gene result in pigmentation disorders such as albinism in humans. In view of the large number of mutations reported in this gene, the aim of this study was to id...

PURPOSE Infantile nystagmus syndrome (INS) is often associated with abnormalities of axonal outgrowth and connectivity. To determine if this manifests in extraocular muscle innervation, specimens from children with idiopathic INS or INS and albinism were examined and compared to normal age-matched control extraocular muscles. METHODS Extraocular muscles removed during normal surgery on childr...

Rice plant regeneration via anther culture possess several difficulties, these included early necrosis and high albinism frequency. In the present study, biotic abiotic factors were studied to develop an efficient protocol for of Malaysian indica rice MR 219 variety. Callus initiation cultures was evaluated using different N6 media supplemented with 2,4-D in combination 1-naphthaleneacetic acid...

This paper studies 83 cases of oculocutaneous albinism (OCA) in family networks of Gitanos in southeastern Spain, and analyzes their sustained inbreeding patterns and complex genealogical relationships. It is based in the family and genealogy reconstitution of the Gitano population of 22 contiguous localities using ethnographic and historical demography methods. The study found a prevalence of ...

BACKGROUND Albinism is a genetic disorder characterized by lack of skin pigmentation. It has a worldwide distribution but is commoner in areas close to the equator like Nigeria. Skin cancers are a major risk associated with albinism and are thought to be a major cause of death in African albinos. Challenges faced in the care of these patients need to be highlighted in order to develop a holisti...

Oculocutaneous albinism type II (OCA2) is the most common form of albinism in humans. OCA2 has been previously associated with mutations of the P gene, the human homologue to the murine pink-eyed dilution gene. The P gene encodes a 110 kDa protein containing 12 potential membrane spanning domains and is associated with melanosomal membranes. The specific function of the P protein is currently u...