Restriction digests of the clone give the following sizes (kb): EcoRI--6.0; HindIII--6.0; PstI--4.0, 2.0; AccI--4.8, 1.5; BamHI--6.0. Insert includes 168 bp 5' untranslated sequence, 1587 bp of open reading frame, and 186 bp 3' untranslated, encoding a protein of 529 amino acids, 60.7 kDa. There is a 5' deletion of 5-8 kb in a French-Canadian Tay-Sachs population. Recorded as not polymorphic by Collaborative Research, meaning either not polymorphic in 0.8% agarose gels, or difficult to work with. Five fragments have been used as probes: 1.4 kb KpnI, 0.31 kb HincII, 0.257 kb SacI, 0.569 kb EcoRI/SacI, and 0.388 kb PvuII/SacI. |
