Answer Posted / swapna
Gaucher disease is a glycolytic storage disease caused by a
deficiency in activity of the catabolic enzyme
glucocerebrosidase. Over 35 different mutations have been
documented, including missense and nonsense point
mutations, splicing mutations, deletions and insertions, a
fusion gene, and examples of gene conversion. Gaucher
disease is most common in the Ashkenazi Jewish population,
in which just five of the mutations in this population
account for 98% of the disease-producing alleles. Each of
these mutations is found in the context of a single
haplotype, a finding consistent with a single origin of
each mutation. Although it is clear that these mutations
provide a selective advantage in the Jewish population and
thus constitute a balanced polymorphism, the nature of the
advantage is unknown. Gaucher disease can be treated
symptomatically, by administration of the missing enzyme,
by allogeneic bone marrow transplantation, and potentially
by gene transfer into hematopoietic stem cells. Increasing
understanding of this disease has, as in other genetic
disorders, created a host of social and ethical dilemmas
regarding matters such as the cost of treatment for rare
diseases and the advantages and disadvantages of population-
targeted genetic screening.
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I have given the protocol for the cyclodextrin glygosyl transferase assay: One ml of appropriately diluted enzyme sample was incubated at 60 °C for 15 min with 5 ml of 1% (w/v) gelatinized soluble starch in 50 mM, 7.0-pH Tris–HCl buffer. Reaction was terminated by boiling the reaction mixture for 3 min and reaction volume was made to 10 ml with distilled water. Two ml of above reaction mixture was withdrawn and mixed with 3 ml of Tris–HCl buffer, 5 ml of 125 mM Na2CO3, and 0.5 ml of phenolphthalein (25 mg phenolphthalein/100 ml absolute alcohol). Absorbance was measured at 550 nm. The percent decrease of sample was calculated with respect to control containing 5 ml of buffer, 5 ml of sodium carbonate and 0.5 ml of phenolphthalein. where Acontrol = absorbance of control and Atest = absorbance of sample. The amount of β-cyclodextrin (β-CD) produced was estimated from the standard graph of 0–500 μg/ml β-CD concentration against % decrease in absorbance. One unit of CGTase was defined as the amount of enzyme required to produce 1 μm of β-CD/min. Please can you suggest me the formula for the defination given in the last line
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