Preview

Research Paper On Albinism

Good Essays
Open Document
Open Document
532 Words
Grammar
Grammar
Plagiarism
Plagiarism
Writing
Writing
Score
Score
Research Paper On Albinism
Albinism and how it Affects People

What is albinism? Well, albinism is a genetic disorder in which your body can’t produce or properly use melanin. Melanin is a pigment that your body produces and can be found in the melanocytes. Albinism is also a recessive trait, so you must inherit two recessive genes, one from each parent. Albinism is caused (most commonly) by a mutation in TYR gene. This gene produces an enzyme, Tyrosinase, that is responsible for the synthesis of Melanin in the body and is located in the Melanocytes.

About 18,000 out of the 318.9 million people in the U.S., of all different races, have some symptoms of Albinism. These symptoms can range from very minor to more extreme. Symptoms include:
White or pinkish
…show more content…
OCA (Oculocutaneous) or Ocular Albinism. OCA is the type of Albinism that is responsible for the lack of Melanin in the eyes, skin, and hair. There are also four different types of OCA: OCA Type 1, OCA Type 2, OCA Type 3, and OCA Type 4. And Ocular Albinism primarily involves problems in the eyes, and the skin and hair are an almost normal color.

About 1 in 20,000 people worldwide are affected by Oculocutaneous Albinism, and this can occur in various races and geographical locations. There are different types of Oculocutaneous, as stated above, and these different types are most distinguishable by the specific hair, skin, and eye color that corresponded with the different types. OCA Type 1 is characterized by light white hair, very pale skin, and light colored irises. OCA Type two is characterized by creamy colored skin, light hair that could range from white to light brown, and typically the eyes are also light in color. OCA Type 2 is most common in African Americans, Native Americans, and Sub-Saharan Africans. OCA Type 1 and OCA Type 2 are the most common forms of Oculocutaneous Albinism. OCA Type 3 mainly effects darker skinned people and typically causes reddish-brown skin, ginger or red hair, and hazel or brown irises. OCA Type 4 is actually very similar to OCA Type 2 and is very hard to distinguish between the two. The gene SLC45A2 is responsible for the OCA Type 4 Albinism, and is the primary way to distinguish

You May Also Find These Documents Helpful

  • Better Essays

    * Dark skin is due to genes that cause large amounts of melanin to be produced; lighter skin is due to genes that cause lesser amount of melanin to form…

    • 1005 Words
    • 5 Pages
    Better Essays
  • Good Essays

    Vitiligo occurs when the body attacks the cells that control skin pigmentation. The areas that are attacked then cause smooth, white patches to form on the body when the skin loses pigment. These patches often form on the hands and face. Vitiligo on the scalp causes white hair to grow from that area. It is not a painful condition, but people who have it are often sensitive about the way they look. Only around one percent of the population is affected by this condition.…

    • 621 Words
    • 3 Pages
    Good Essays
  • Good Essays

    Vitiligo Research Paper

    • 560 Words
    • 3 Pages

    Melanin is the pigment that gives the skin its characteristic color. Vitiligo is caused by a loss of pigment in the skin, due to destruction of pigment-forming cells known as melanocytes. The exact cause of the destruction of these cells is not known.…

    • 560 Words
    • 3 Pages
    Good Essays
  • Satisfactory Essays

    Knee Oa Case Study

    • 125 Words
    • 1 Page

    Evidences also supports a strong genetic tendency of OA (one of the studies has shown a prevalence of 39-65% of OA due to genetic predisposition)…

    • 125 Words
    • 1 Page
    Satisfactory Essays
  • Good Essays

    Vitiligo Research Paper

    • 584 Words
    • 3 Pages

    Many experts think that vitiligo is an autoimmune-related disorder, but we aren’t sure what causes the autoimmune response. In vitiligo, only the colour of the skin is affected, but the texture and other skin qualities stay normal.…

    • 584 Words
    • 3 Pages
    Good Essays
  • Powerful Essays

    rosalind vs antigone

    • 2738 Words
    • 11 Pages

    Throughout the times there have always been women whom have a certain kind of motivation and strive to not only influence theirs but also the lives of others .Women whom know exactly what they want and are willing to fight even fate to reach what they had intended . I have chosen to compare two powerful and leading ladies Rosalind from “as you like it “ and Antigone from Sophocles’ “Antigone“ . there is the feminist who seeks privilege and the feminist who seeks opportunity ,she who wants a bigger share for women , more wealth ,power or liberty (Parsons 52) which in the case of our heroines it is the matter of power and liberty .These women not only influence there own destiny and future but they also influence others around them like cilia whom by being faithful to her cousin Rosalind follows her to the garden of Arden and therefore falls in love with Orlando’s brother Oliver , Orlando or even phoebes future ,and examples from Antigone would be how she influences her destiny (death ) or even Ismenes or Haemons life. Like Antigone ,Rosalind is very gutsy we understand this when she is sent to exile by her uncle and instead of feeling frightened she puts on a brave face and goes to the garden of Arden in search of freedom .She is quit an interesting character ,for although she smartly believes love to be madness and even tells Orlando whose told her he would die if he can’t have her that "men have died from time to time, and/ worms have eaten them, but not for love" (4.1.18) making her a wise person and yet she allows herself to fully embrace love and experience it and like Antigone whom kills herself goes to rather similar extremes such as working on her beloveds romance skills while dressed as a boy (Ganymede) . Antigone too does many heroic things to show her braveness for example risking all she has for her beliefs and loyalty and even killing herself .She simply feels that she can take her destiny in her own hands . She always wants…

    • 2738 Words
    • 11 Pages
    Powerful Essays
  • Good Essays

    Moalem suggests that all humans had pale skin with dark hair all over to protect ourselves from too much sunlight. However, as the human evolved and lost a significant amount body hair, the skin, the largest organ of the body, would become exposed to the strong ultraviolet rays of the sun. Ultraviolet B, a specific type of ultraviolet light, is beneficial as it effectively converts our cholesterol into Vitamin D, which the body cannot simply live without. However, too much sunlight exposure and harmful effects quickly outnumber the beneficial ones, ranging from sunburn to skin cancer and the decrease of our body's folic acid. Thus, humans, especially those near the equator, developed a darker skin tone with the pigment melanin. While the color of the dark skin absorbs more heat and light, the melanin in the skin prevents too much of the harmful rays from penetrating the skin, protecting folic acid. However, "[dark skin] didn't evolve with a switch -- you can't turn it off when you need to whip up a batch of vitamin D." That is where the genetic mutation apolipoprotein E, or ApoE4 for short, came in. "[ApoE4] ensures that the amount of cholesterol flowing through your blood is cranked up. With more cholesterol available for conversion, dark-skinned people can maximize the use of whatever sunlight penetrates their skin." The fair-skinned Europeans of the time…

    • 507 Words
    • 3 Pages
    Good Essays
  • Powerful Essays

    The X-linked form of the disease is caused by mutations in the COL4A5 gene encoding the alpha5-chain of type IV-collagen (Hertz, Juncker et al. 2001) whereas the autosomal forms are due to mutations in the COL4A3 or COL4A4 genes (Gubler, Knebelmann et al. 1995). The ocular manifestations of autosomal recessive Alport syndrome are probably identical to those for the X-linked form; although the mutations in these diseases affect genes for different type IV collagen chains, these chains occur together in the basement membranes of the kidney, eye and ear, and abnormalities in any one may result in the same clinical phenotype (Colville, Savige et al. 1997).…

    • 1598 Words
    • 7 Pages
    Powerful Essays
  • Good Essays

    Retinitis Pigmentosa or RP is an inherited disease that affects 1 in 5000 people worldwide. The disease causes the cells in the retina to slowly deteriorate. Molecular defects in different genes cause Retinitis Pigmentosa. RP results from harmful changes in genes needed to make proteins for rods and cones that are in the retina. In the early stages, the rods are more affected than the cones. When the rods start dying, the patient will experience night blindness and some vision loss. The cones will then start breaking down due to the loss of rods. In the late stages, the cones die and therefore as the result the patient will develop tunnel vision. Tunnel vision is like looking through a tube. This makes it hard for the patient to complete daily tasks. Eventually the patient with RP will lose most of their eyesight.…

    • 395 Words
    • 2 Pages
    Good Essays
  • Good Essays

    According to Dryja Ap et. al (1990), A rare disease that causes visual imparity, retinitis pigmentosa, is due to SNP mutations in the rhodopsin receptor. RP varies from the age of onset to its severity of the disease itself. With most cases having a gradual loss of the RPE cells and degradation of the cones and rods photoreceptor cells, nyctalopia and tunnel vision are primary indicators of the disease being present in humans. The rhodopsin mutation consists of a G-T nucleotide substitution at the 152nd position in the amino acid chain. Rhodopsin receptor is a member of the largest G-protein coupled receptors (GPCR), which is more commonly referred to Family A. The mutation causes the protein to misfold, thus resulting in the loss of function for that…

    • 1067 Words
    • 5 Pages
    Good Essays
  • Good Essays

    Type VII and VIII are recessive types of OI which do not cause mutations in the type I collagen genes. Instead they occur from mutations in the cartilage-associated protein gene(Type VII) and the prolyl 3-hydroxylase I gene(Type VIII). Recessive forms of OI can have severe and moderate effects. Osteogenesis Imperfecta is a pretty uncommon genetic disorder, only affecting about 6 to 7 people out of 100,000. Types I and IV are the most common, affecting 4 to 5 out of the previously mentioned 6 to 7. OI is usually diagnosed through outward signs, such as bone deformities or discolored sclera, as well as previous family cases, x-rays, and abnormal type I collagen. There is currently no known cure for osteogenesis imperfecta, but it can be treated and steps can be taken to reduce its hinderance on an affected individual's everyday life. Since the main effects that all types of OI have is low bone density, it is heavily recommended that those with the disorder build their bone density. Bone density can be built up through safe exercise, diets, and if required medication. It is important to regularly check up with your physician, to make sure that you are actually building up your bone…

    • 739 Words
    • 3 Pages
    Good Essays
  • Good Essays

    Albinism is a genetically heterogeneous congenital disorder, which causes decreased or absent pigmentation in the hair, skin, and eyes (O’Neill “Albinism, Oculotaneous”). There are two different types, which include: oculocutaneous and ocular albinism. Oculocutaneous albinism affects the hair, skin, and eyes whereas ocular albinism only affects the eyes.…

    • 743 Words
    • 3 Pages
    Good Essays
  • Good Essays

    Essay On Vitiligo

    • 479 Words
    • 2 Pages

    Vitiligo is a disorder in which the melanocytes, also known as skin cells, attack each other in certain areas of the body. This issue is called an autoimmune disorder which occurs when the immune system attacks the body's own tissues and organs (Get the Facts on Causes and Treatment). They do this because the white blood cells think that there are foreign objects that shouldn’t be in that part of the body and proceed to attack each…

    • 479 Words
    • 2 Pages
    Good Essays
  • Good Essays

    Melasma Research Paper

    • 419 Words
    • 2 Pages

    Melasma, sometimes known as chloasma, is a fairly common skin disorder that results in discoloration of the pigmentation. This spotty, brown color can be seen over the surface of the skin, but it is usually found around areas easily targeted by the sun, such as the face and the upper extremities. The epidermal, dermal, and mixed are three different types of melasma. It is stemmed genetically, but it usually only presents itself when triggered. The diagnosis is practically clean cut, and the treatment can vary.…

    • 419 Words
    • 2 Pages
    Good Essays
  • Powerful Essays

    Chromosome 11

    • 1918 Words
    • 8 Pages

    Chromosome 11 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 11 spans about 134 million base pairs (the building material of DNA) and represents between 4 and 4.5 percent of the total DNA in cells. Identifying genes on each chromosome is an active area of genetic research. Chromosome 11 likely contains between 1,300 and 1,700 genes. Genes on chromosome 11 are among the estimated 25,000 total genes in the human genome. There are many conditions related to genes on chromosome 11 including Charcot-Marie-Tooth Disease, Alexander Disease, Omenn 's Syndrome, Spinocerebellar Ataxia, Aniridia, Denys-Drash Syndrome, Sickle cell anemia, Keratitis, Albinism, and Ewing 's Sarcoma (King, 2006).…

    • 1918 Words
    • 8 Pages
    Powerful Essays