Essay on The Genetic Defect Albinism

Imagine, you are a seven year old boy living in an Chinese orphanage where there are nearly a thousand other children, and you were found on the side of the road wrapped in a yellow blanket. Out of all of the children you are the only albino. Your skin and hair are white as snow, and your eyes are red or lavender depending on the light. It is impossible to fit in because albinism is feared in the Chinese culture. One day someone tells you that you are moving. No explanation why or where you are moving, and with the clothes on your back you are dropped off at an office, waiting for the start of a new life.

4. Clear wing, Black eye, and Hairless (c, b, and h) are linked, recessive traits carried on

Heterozygous females have different LWS genes on their X-chromosomes. Jacobs states that “the early developmental process of random X-chromosome inactivation results in a retina that contains three classes of cone pigments; since there are only three possible pairings, there are also

Using complete blending and If Brown is dominate but and the child was born with Brown colored eyes. Giving the idea off question 1, again using the laws of Mendelian inheritance; The Brown eye dominance play truth to the chart or figure 2. The parents would be more Homozygous Brown dominate or BB. The Father would have a dominate Bb and the mother would have Bb dominates, which would explain the reason the girl has brown eyes over the secular Blue eye color as seen in figure 2 regardless of which gene or allele is first: example Bb, bB or BB.

Some ways that diagnose albinism would be a physical exam, or a thorough exam of the eyes, and comparing offspring’s skin pigment to other people in the family. Ways to treat albinism can be to use eyeglasses and sunglasses to protect eyes and correct vision problems, or protective clothing and sunscreen to protect skin from sunburn. Though it may be possible for your skin to fail to produce pigment, albinism is usually a gene started at birth.

"Originally, we all had brown eyes," said Professor Hans Eiberg from the Department of Cellular and Molecular Medicine. "But a genetic mutation affecting the OCA2 gene in our chromosomes resulted in the creation of a "switch," which literally "turned off" the ability to produce brown eyes." The OCA2 gene codes for the so-called P protein, which is involved in the production of melanin, the pigment that gives colour to our hair, eyes and skin.

There are various types of albinism that affect humans and animals alike. Oculocutaneous albinism (OCA) primarily affects the skin, hair, and eyes. There are several subtypes of OCA including OCA1, OCA2,OCA3, and OCA4.  OCA1 is a result of a defect in the tyrosinase enzyme, which is the enzyme responsible for melanin production. Individuals with OCA1a have a complete absence of melanin and tend to have white hair, very pale skin, and light eyes.  Another subtype of OCA1 is OCA1b. Those with OCA1b produce melanin in minimal amounts but their coloring may increase with age. OCA2 is less severe than OCA1. Mutations in the OCA2 gene cause a disruption in the normal production of melanin; therefore, causing vision problems and reductions in hair,

heterochromia is defined as a difference in color, usually of the iris but also of hair or skin. Heterochromia is a result of the relative excess or lack of melanin (a pigment). Heterochromia may be inherited, or caused by genetic mosaicism, chimerism, disease, or injury

Life with albinism is not an easy task the risk of cancer goes up when you have albinism. There is on person with albinism that is very high risk for cancer. Her name is “Sam Purcell” she has had skin cancer once and 120 tumors on her skin. Sam has also lived a somewhat normal life with this condition, she also managed to go to the Olympics.

The defective gene which is passed down from both parents to the child is what causes albinism. The enzyme produced by the TYR gene, called tyrosinase, is required for the synthesis of melanin pigment. A mutation in the TYR gene causes the most common form of albinism. People with this defective gene have either a partial or complete lack of pigment.

Albinism is a congenital disorder associated with partial or total lack of pigmentation of the skin. Scientifically, this is referred to as the Oculocutaneous albinism (OCA) (). This condition is genetically inherited, passed from parents with carrier genes or those already with the disorder to their off springs. OCA is subdivided into two categories, OCA1 and OCA 2. OCA 2 is the most prevalent type of albinism found in Africa.

Albinism in humans is very rare in the US, as there is a 1 in 1800 chance of getting it. Albinism occurs in the GPR143 chromosome. The GPR14 chromosome is what makes protein for the eyes and skin. The protein is made at the back of the eye, the light-sensitive part.

The people who are at risk for albinism are people who inherit a gene from one or both of their parents if they have the gene

An enduring problem for a person living with albinism is how they are marganalised and stigmatised by the society because of the myths that surround their condition. In black ethnic communities in South Africa, the birth of a child with albinism means a number of things but none of those things are connected to the actual person with the condition. As suggested by Blankenberg (2000), the meaning of albinism is connected to a belief in the spirits or ancestors. One of the beliefs of the birth of a child with albinism is that it is a fault that the mother is responsible for. It is commonly associated with the mother’s act of infidelity and the birth of a child with albinism is a symbol/representation of her wrongdoing resulting in a curse by the spirits. According to Lund’s

All around the world albinos are being hunted for their bones, hair, skin, organs and limbs. Many people believe that people