[Reconstruction of hexosaminidase isoenzymes during hybridization of fibroblasts from Tay-Sachs and Sandhoff diseases].
The method of hybridization was used to obtain homokaryons of normal fibroblasts, of fibroblasts from children with Tay-Sach's and Sandhoff's diseases (TSD and SD) and heterokaryons of fibroblasts from children with the same diseases. Hexosaminidase A was detected in heterokaryons of fibroblasts from children with TSD and SD by isoelectric focusing. The data pertaining to the heterogeneity of different forms of hexoaminidase are discussed as are the reconstructions of the isozymes depending on the time and index of hybridization. It is stressed that the method of genetic complementation may be used for confirming the diagnoses of TSD and SD and further study of their heterogeneity.
D002648:Child; D005347:Fibroblasts; D006579:Heterozygote; D054818:Hexosaminidase A; D006596:Hexosaminidases / Q000032:analysis*; D006720:Homozygote; D006801:Humans; D006822:Hybrid Cells / Q000201:enzymology*; D007527:Isoenzymes / Q000032:analysis*; D012497:Sandhoff Disease / Q000235:genetics*; D013661:Tay-Sachs Disease / Q000235:genetics*; D001619:beta-N-Acetylhexosaminidases
D007527:Isoenzymes; D006596:Hexosaminidases; D054818:Hexosaminidase A; D001619:beta-N-Acetylhexosaminidases
Izuchenie rekonstruktsii izofermentov geksozaminidazy pri gibridizatsii fibroblastov liudeĭ s bolezniami Teia-Saksa i Zandgoffa.