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Question

The genetic defect Adenosine Deaminase (ADA) deficiency may be cured permanently by

A
periodic infusion of genetically engineered lymphocytes having functional ADA producing cDNA
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B
administering adenosine deaminase activators
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C
introducing the normal gene producing ADA into cells at early embryonic stage
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D
enzyme replacement therapy
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Solution

The correct option is C introducing the normal gene producing ADA into cells at early embryonic stage

Severe Combined Immuno-Deficiency (SCID) caused by Adenosine Deaminase deficiency (ADA) is a life threatening syndrome of recurrent infections and failure to thrive. This is caused by the deficiency of the enzyme adenosine deaminase (ADA). ADA deficiency in a patient can be treated by bone marrow transplantation or by enzyme replacement therapy in which fully functional ADA is administered to the patient by injection and also by periodic infusion of genetically engineered lymphocytes having functional ADA producing cDNA. However these are not permanent cures.

ADA deficiency can be cured permanently by inserting the isolated gene from the bone marrow of a suitable donor into the patient at early embryonic stages. This means the deficiency has to be diagnosed at early embryonic stage itself. As the genetically modified embryo cells proliferate and the fetus is formed, it would have the cells with the ability to produce normal amounts of ADA enzyme.


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