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Whose family tree could possibly harbor the recessive allele for tay sachs disease
Case study of tay sachs disease
Case study of tay sachs disease
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Tay-sachs Disease
Tay-sachs disease is perhaps a very dramatic disease because it strikes most keenly at small children and babies. The disease is very rare and fatal. Tay-sachs is a genetic disorder in which harmful amounts of fatty lipids, known as ganglioside GM2, is built up in the nerve cells in the brain. Infants who with Tay-sachs disease, who are not carriers, appear to develop normally for the first few months since their birth, but as the nerve cells become swollen with the fatty material, a severe decline of mental and physical abilities occurs. The child then becomes deaf, blind, and unable to swallow.
Soon, muscles begin to decay and paralysis takes effect. Eventually, the infant will die.
The first recorded case of Tay-sachs disease was described by Warren Tay, a British opthalmalogist, in 1881. In 1887, the American neurologist Barnard Sachs,described the neurology of Tay-sachs disease. Because these two men made such important contributions, as well as the earliest, to Tay-sachs disease, the disease was named after them.
Tay-sachs has infected millions of people since its discovery. The most common groups affected by Tay-sachs are Eastern and Central European Jews,some French-Canadians, the Irish, and some groups of Cajuns. The general carrier ratio for TSD is 1:250, or 0.4%.
Tay-Sachs is a recessive disorder, it is transmitted through the genes in the same way as eye color is passed from parent to child. Even though it is an inherited condition, most families are not aware that they carry genes for a disease until the birth of an affected child. Children with Tay-Sachs are most often born to parents with no family history of the disease. A recessive condition like Tay-Sachs results ...
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...m protect their families from this disease.A blood test can distinguish Tay-Sachs carriers from non-carriers. Blood samples can be analyzed by either an enzyme test or DNA studies. The enzyme test is a biochemical test that measures the level of Hex-A in a person's blood. Carriers have less Hex-A in their body fluid and cells than non-carriers, but babies with Tay-Sachs disease have a complete absence of Hex-A in their cells. The biochemical test is able to detect all Tay-Sachs carriers of all ethnic backgrounds.
Although there is no cure for TSD, there are several revention methods for the disease, which gives hope to those who are carrier, but would like to bring a family into the world. Hopefully, further study and research of Tay-Sachs will lead to a cure one day, and TSD will no longer be a deadly factor for infants, and bring hope to their parents.
Tay-Sachs disease is a rare and fatal genetic disorder that destroys neurons in the brain and spinal cord. The disease appears in three forms, Juvenile Onset, Late Onset (known as LOTS), and the most common form, Infantile (also known as Classic). The differences between the three forms of the disease are related to the age at which the symptoms of the disease begin to form. Tay-Sachs results from a deficiency of the enzyme hexosaminidase A, which plays a vital role in removing a fatty substance, called GM2 gangliosides, from neurons.
Tay-Sachs disease is a rear inherited disorder that affects the nerve cells (neurons) in the brain as well as the spinal cord. This disease is an autosomal recessive genetic disorder rather than a sex-linked disorder like some think. In order to inherit Tay-Sachs disease, the gene must be inherited by both parents (Gravel, 2003). If the gene is inherited only by one parent, then the individuals will only be a carrier and has the potential of passing on this disease to their children. The odds of inheriting Tay-Sachs disease if both parents are carriers are 1-4 (25%). The chromosome responsible for the abnormality or mutation that causes Tay-Sachs disease is chromosome 15. Chromosome 15 is the one that codes for production of the enzyme hexosaminidase A (Hex-A) (Gravel, 2003).
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Tuberculosis is a highly contagious disease that is spread through the air from one person to another causing it to be an airborne disease. When a person with tuberculosis coughs or sneezes the bacteria fly into the air. Anyone around a person with tuberculosis who is not wearing proper personal protective equipment, and breathes in the bacteria will then catch tuberculosis. Tuberculosis mainly affects the lungs, but it can
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Researchers have also identified a list of other factors associated with TB transmission such as environmental, organism and host factors, but these unfortunately, are outside the scope of the present paper. 16