lab report 6_final

lab report 6_final - Carly Kruchten-Sheridan Graham Barnett...

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Carly Kruchten-Sheridan Lab 6 – Human Genome Project Graham Barnett Poev Touch 1) What is Tay Sach’s disease? What causes it? What is its inheritance pattern? Tay Sachs is a progressive and fatal disease that slowly affects the central nervous system of babies. The affected babies suffer from a mutation from a single base-pair change within a gene on chromosome 15 that codes for Hexosaminidase-A. This enzyme is responsible for breaking down a certain fat substance in nerve cells. Mutation of this important metabolic pathway causes a build up of gangliosides in lysosomes within nerve cells. The buildup causes pressure that crushes viable brain and nerve cells, leading to noticeable mental and physical symptoms after the first few months of life. The child will seem normal at birth but lands up missing key markers necessary for correct further development. Symptoms of Tay Sachs include startling easy, blindness, inability to eat solid food, paralysis, seizures and eventually death usually within 5 to 7 years. A baby can inherit the gene if both their mother and father are carriers of the Tay Sachs mutated gene. Less than one in thirty people even carry the Tay Sachs gene, and mostly all of them have no idea that they’re carriers. If two carriers have a baby there is a one in four chance that the child will have Tay Sachs. The baby must get the mutated gene from both the mother and the father.
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This lab report was uploaded on 04/07/2008 for the course PHRM 223 taught by Professor Gerald during the Fall '05 term at UConn.

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lab report 6_final - Carly Kruchten-Sheridan Graham Barnett...

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