Evidence for the presence of ?-subunit of hexosaminidase in a case of Sandhoff disease using a blotting technique

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Abstract
Hexosaminidases, lysosomal enzymes whose deficiency is responsible for several genetic disorders, exist as two major forms: form A, containing two types of subunits α and β; and form B, containing only β subunits. We have used a technique involving successively electrophoresis of denatured proteins, transfer (blotting) onto nitrocellulose, and labelling by appropriate antibodies raised against the dissociated forms of hexosaminidases A and B. This technique allows the detection of α and β subunits in crude extracts of normal tissues. The presence of β chains was demonstrated in the liver of a fetus affected with Sandhoff's disease, deficient in functional hexosaminidases A and B.