During genetic screening for Tay-Sach disease, high levels of functional enzyme hexosaminidase release maximum fluorescence from an artificial substrate whereas missing enzyme is associated with little or no fluorescence and carriers show intermediate levels of fluorescence. The levels of fluorescence expected for the different genotypes would be: The Role of Fluorescence for Genetic Screening of Tay-Sach Disease

For genetic screening of Tay-Sach Disease, Fluorescence is an important tool

The measurement of fluorescence from artificial substrates is part of genetic screening for Tay-Sach disorder. Fluorescence is released from artificial substrates when hexosaminidase (functional enzyme) is present. This enzyme is missing, so there will not be much fluorescence. Fluorescence levels will vary between carriers of the disease. You can determine the expected fluorescence levels for each genotype by measuring enzyme activity and the substrate level in your sample. Low levels of fluorescence can be expected for people suffering from the disease. This is because enzyme activity decreases significantly in those with it. The enzyme activity of carriers is lower than that in people with full-blown disease. However, this results in intermediate fluorescence levels. Normal enzyme activity will result in fluorescence for those without the disease (Lam 2018, 2018). There are also certain point mutations that may be associated with Tay Sach disease. These can be identified using fluorescence. Point mutations cause decreased fluorescence due to disruption in enzyme activity. This is useful for accurately diagnosing the condition (Lam 2016). Cont…

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