Tay-Sachs Disease

Tay-Sachs disease is a metabolic disorder that is common in Ashkenazi Jewish. Infants with the disease might express deafness, blindness, and/or paralysis. These symptoms are due to loss of neurons as lipid is not metabolized properly which leads to its accumulation on the nerve cells, then subsequently their destructions. A nonsense mutation in HEXA gene lead to form a truncated hexosaminidase A enzyme that is not efficient for lipid metabolism.

1)    What is the molecular technology to analyze the product of HEXA gene mutation?

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2)    Explain the expected results of this technique if you compared a sample for a Tay-Sachs patient and a sample for a normal control. For more information on Tay-Sachs Disease check out: https://www.britannica.com/science/Tay-Sachs-disease

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