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Essay / Research Paper Abstract
A 4 page discussion of the epidemiology and testing mechanisms which are available for this autosomal recessive genetic mutation. The disease is characterized by severe degeneration of the Central Nervous System, a degeneration which most often manifests prior to the age of three but which can also be characterized by later onset. Testing to identify carriers of this disease is critical. Bibliography lists 4 sources.
Page Count:
4 pages (~225 words per page)
File: AM2_PPtaySac.rtf
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Unformatted sample text from the term paper:
Disease is the result of a genetic mutation (National Tay-Sachs and Allied Diseases Association, 2003). The disease is autosomal recessive and is characterized by severe degeneration of the Central
Nervous System, a degeneration which most often manifests prior to the age of three but which can also be characterized by later onset (National Institute of Health, 2003). The
ultimate outcome of the disease in both instances is death (National Institute of Neurological Disorders and Stroke, 2003). In the early manifestation the mutation circumvents the ability of the
body to produce an enzyme (hexosaminidase A) critical in fat metabolism in the nerve cells (National Tay-Sachs and Allied Diseases Association, 2003). In the late onset form some enzymatic
production is accomplished and the ultimate physiologic impact is less immediate. In both forms of Tay-Sachs, however, there is a gradual buildup of the lipid GM_(2) ganglioside and a
consequent destruction of nerve cells (National Tay-Sachs and Allied Diseases Association, 2003). A cherry-red spot in the eye is a characteristic symptom of the disease (National Institute of Health,
2003). Even more disturbing, however, is the gradual loss of motor skills, convulsions, problems in swallowing and breathing, a loss of peripheral vision and eventual blindness, mental retardation, paralysis,
and non-responsiveness (National Tay-Sachs and Allied Diseases Association, 2003; National Institute of Neurological Disorders and Stroke, 2003). To be impacted by
Tay-Sachs Disease a baby has to receive a gene for the condition from both its mother and its father. Any individual can carry the Tay-Sachs gene, therefore, and unknowingly
pass it on to their offspring without actually suffering from the condition themselves. Indeed, a child has a fifty percent chance of receiving the gene from either parent who
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