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1. A)Based on the evidence at OMIM there has been many people who have worked on the genetic problem recently within the 2000s. B)I think that this site would be very helpful for a physician, a geneticist, or a person at risk for the disease because it offers information that would be of use for anyone to know. C)Comparing this site to a different site that I located for the general public, the information didn’t change because there is not much to get confused since there is not that much known reasons for the disease.
2. A)Tay-Sachs disease is caused by the absence or insufficient level of a vital enzyme called hexosaminidase (Hex-A). Without Hex-A, a fatty substance or lipid called GM2 ganglioside accumulates abnormally in cells, especially in the nerve cells of the brain. This ongoing accumulation causes progressive damage to the cells. B) Tay-Sachs is inherited as an autonomic recessive pattern, which means both parents must be carriers. C)When two carriers become parents there is a 25 percent (1-in-4) chance that any child they have will inherit a gene mutation from each parent and have the disease. There is a 25 percent chance (1-in-4) that the child will inherit the normal gene from each parent. The child will not have the disease and will not be a carrier. There is a 50 percent (2-in-4) chance that the child will inherit one normal and one abnormal gene. The child will not have the disease but will be a carrier like the parents. If only one parent is a carrier, none of that person's children can inherit the disease. However, each child has a 50 percent chance of inheriting the gene mutation and being a carrier.
3. Tay-Sachs disease is classified in different forms based on the time of the onset neurological symptoms. Patients with Tay-Sachs have a cherry-red spot in the back of their eye, which is formed due to the gangliosides in the surrounding retina cells. In infantile Tay-Sachs disease infants develop normally for the first six...