The Role of Fluorescence for Genetic Screening of Tay-Sach Disease
Genetic screening for Tay-Sach disease involves the measurement of fluorescence released from an artificial substrate. This is due to the presence of the functional enzyme hexosaminidase, which when present, releases maximum fluorescence. In the absence of this enzyme, little to no fluorescence will be released. Carriers of the disease will show intermediate levels of fluorescence. The levels of fluorescence to be expected for each genotype can be determined by measuring the enzyme activity and the amount of substrate present in the sample. For individuals with the disease, the enzyme activity is significantly reduced, resulting in a low level of fluorescence. For carriers, the enzyme activity is reduced, but not as much as in those with the full disease, resulting in intermediate levels of fluorescence. Those without the disease will have normal enzyme activity, resulting in high levels of fluorescence (Lam, 2018).
Additionally, there are certain point mutations associated with Tay-Sach disease that can be detected using fluorescence. The point mutations disrupt the enzyme activity, resulting in a decreased level of fluorescence. This can be used to accurately diagnose the disease (Lam, 2016). Cont…
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