Oculocutaneous albinism

Albinism is a genetic disorder characterized by a minimal production of melanin in the skin due to mutations in several genes. These variety of mutations can result in an immensely lower amount of melanin produced in the skin. For instance, there are four sorts of albinism that are determined by which mutated gene had created the disorder. They consist of oculocutaneous albinism, x-linked ocular albinism, hermansky-pudlak syndrome, and chediak-higashi syndrome. Oculocutaneous albinism (OCA) is where there is a mutation in one gene out of the four. Those with OCA type one are born primarily with white hair, blue eyes, and milky white skin, whereas those with OCA type three generally have ginger colored hair with red-brown skin, and brown or…

The O’Donnell family is concerned that if they start a family, they may have a child with albinism. Albinism is a hereditary disorder, usually transmitted as an autosomal recessive trait, in which there is partial or total absence of pigment in the skin, hair, and eyes (oculocutaneous albinism) or in the eyes alone (ocular albinism), caused by defective or absent function of the enzyme tyrosinase. The most common form of albinism is known as oculocutaneous albinism. In more severe cases, the…

choose oculocutaneous albinism to write about, from the praise albinos get in the fashion industry to the hurt and horrible mistreatment from some African towns. It has always been my interest on how an affected person became the way they are now. From the normalcy of their speech, activity and functions but the difference of milky white skin and colorless hair. Skin color has never been an issue for me but to see someone with albinism peaks my interest because of its rarity and beauty.…

Oculocutaneous Albinism I have oculocutaneous albinism which is an inherited disorder characterized by a reduction or complete lack of melanin pigment in the hair, skin and eyes. These conditions are caused by mutations in specific genes that are necessary for the production of melanin pigment in specialized cells called melanocytes which are found in your skin and eyes. Oculocutaneous albinism is inherited as an autosomal recessive genetic condition. I was diagnosed when I was three months…

(Nowicki ,“Chediak-Higashi Syndrome,” para.2). It is caused by mutations of the LYST gene which is also known as the CHS1 gene. This gene makes “a protein known as the lysosomal trafficking regulator,” (Genetics Home Reference, January 2014). They cause the lysosome to enlarge which ultimately causes problems with normal cell function. “Patients with Chédiak-Higashi syndrome exhibit alterations in neutrophils. These alterations include neutropenia, which may be profound; decreased…

Albinism is a rare genetic condition characterized by the reduced pigmentation in a person’s hair, skin, and eyes. In most variations of the disorder, it is an autosomal recessive condition, an albino individual would have to inherit the recessive allele from both parents. This condition has been of particular intrigue to me ever since I had been introduced to the disorder when reading a novel where the main character suffered from albinism. Even though this character had suffered extreme…

Albinism is a skin disease that’s caused by little to no production of melanin. This disorder can affect vison, skin, hair and the person’s ability to tan. Certain genes in our body are responsible for making proteins that are involved in making melanin, which is produced by cells called melanocytes. Albinism is caused when a mutation occurs in one of these genes. It’s also caused by recessive inheritance. This means that a person has to inherit two copies of one mutated gene- one from each…

Albinism in humans is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes due to absence or defect of tyrosinase, a copper-containing enzyme involved in the production of melanin. It is the opposite of melanism. Unlike humans, other animals have multiple pigments and for these, albinism is considered to be a hereditary condition characterised by the absence of melanin in particular, in the eyes, skin, hair, scales, feathers or cuticle.…

ave you ever wonder how we our genes tells how we look, talk, what race we are this is all based on Genetics. In this essay we are going to talk about how Heritable/genetic trait, Dominant vs recessive genes, and mutation affects us and how it affects people with these genes. Without genes we will all look the same so rather i think that genes aren’t important they are very important. Heritable/Genetic traits are very important to us because these are the genes that we get from our parents. A…

Albinism is a genetic condition where people are born without their usual pigment in their body. Being albino gives you like a pale appearance it is also found in animals and plants. The eye will even look pink or red. Melanin is a chemical that we have in our body which is what is responsible for our eye, skin and even hair color. So when our body isn’t able to make a normal amount of melanin, or doesn’t produce any melanin at all is when they say someone is albino. Albinism is however said to…