Tay-Sachs

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  • Topic: Genetic disorder, Tay-Sachs disease, Sandhoff disease
  • Pages : 4 (1382 words )
  • Download(s) : 84
  • Published : April 11, 2013
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Tay-Sachs

Katherine Sloss
CYW 316

Melissa Hinds
821 232 485

Due Date- March 28, 2013

In this research paper I will be discussing the disorder known as Tay-sachs. This disorder occurs when the body lacks a protein called hexosaminidase. This protein helps in breaking down a chemical called gangliosides gm2 which is found in the body nerve endings in the brain. If the gangliosides is not broken down then it builds up to toxic levels which will have an effect on the brain. When this happens the symptoms of tay-sachs begin. It is important to note that this disorder has three different categories known as infantile, juvenile, and adult form(Kliegman. Behrman. Jenson.Stanton., 2012). Each form having severe effects on the patient. Research has found that the defect is in chromosome 15. In this paper I will be discussing how and why a person gets this disorder. I will also be making reference to statistics and how a child is diagnosed. With all of this explained I will explore treatment approaches along with the different community resources that are available to the tay-sach patients and their family. Research shows that tay-sachs is a genetic disorder that favors people of the Eastern Europe’s Jews community. Presently statistics show that 1 in 27 Ashkenazi Jews, French Canadians, or Louisiana affected with this disorder. 1 in 50 Irish Americans and 1 in 250 from the general population are carriers of the tay-sach gene (National Tay-Sachs & Allied Diseases Association, 2007). Tay-Sachs patient only can get this disease by inheritance from his or her parents. So a patient has to inherit both the inactive Hexosaminidase A gene from parents. If he or she inherits one active gene and other inactive genes, there are no chances for him or her to get Tay-Sachs. But he or she is considered as a Tay-Sachs carrier, which means they can transmit the gene to their children. As mentioned before tay-sachs comes in three forms the first is referred...
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