There are many diseases that affect certain age and gender groups. Tay Sachs is an age specific disease, which is genetically passed down from parent to child. Tay Sachs can be diagnosed as early as 11 weeks into pregnancy using chorionic villi sampling (CVS). If Tay Sachs is not diagnosed before birth, a red spot on the macula, is also an indicator that a child has the genetically fatal disease. Tay Sachs begins to affect infants as early as 3-6 months of age. Symptoms of Tay Sachs become obvious when delayed mental and social development begins to occur and slowly deteriorate as the nervous system is badly affected. Symptoms that the children will begin to experience are as follow: loss of hearing, loss of vision, decreased muscle tone and
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Both male and females can be carriers of the abnormal gene, which causes Tay Sachs and still live normal lives. The Tay Sachs disease is common among the Eastern European (Ashkenazi) if Jewish descent. The disease is also common among the French Canadians (non- Jewish) near the St. Lawerence River and the Cajun community in Louisiana. In the general population, 1 out of 250 people are carriers. If two carriers of the Tay Sachs gene decide to have a child, there is a twenty-five percent probability that their child with have Tay Sachs. The probability that their child will be a carrier of the gene and not the disease is fifty percent while there is a twenty-five percent chance that the child will not have the gene or the disease. Children born with Tay Sachs are born without an enzyme called hexosaminidase A (Hex A), which assists in breaking down GM2 ganglioside lipid. Hexosaminidase A deficiency is a direct result of a defect found in Chromosome 15 which controls the production of the hexosaminidase A enzyme. A healthy person is born with the hexosaminidase A enzyme, which prevents the build up GM2 ganglioside lipid. Without hexosaminidase A, the build up of the GM2 ganglioslide lipid in the brain eventually causes neurological
Both male and females can be carriers of the abnormal gene, which causes Tay Sachs and still live normal lives. The Tay Sachs disease is common among the Eastern European (Ashkenazi) if Jewish descent. The disease is also common among the French Canadians (non- Jewish) near the St. Lawerence River and the Cajun community in Louisiana. In the general population, 1 out of 250 people are carriers. If two carriers of the Tay Sachs gene decide to have a child, there is a twenty-five percent probability that their child with have Tay Sachs. The probability that their child will be a carrier of the gene and not the disease is fifty percent while there is a twenty-five percent chance that the child will not have the gene or the disease. Children born with Tay Sachs are born without an enzyme called hexosaminidase A (Hex A), which assists in breaking down GM2 ganglioside lipid. Hexosaminidase A deficiency is a direct result of a defect found in Chromosome 15 which controls the production of the hexosaminidase A enzyme. A healthy person is born with the hexosaminidase A enzyme, which prevents the build up GM2 ganglioside lipid. Without hexosaminidase A, the build up of the GM2 ganglioslide lipid in the brain eventually causes neurological