Beĭer E M, Vidershaĭn G Ia, Venert M
Biull Eksp Biol Med. 1984 Jan;97(1):83-6.
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.
采用杂交方法获得了正常成纤维细胞、患有泰-萨克斯病和桑德霍夫病(TSD和SD)儿童的成纤维细胞的同核体,以及患有相同疾病儿童的成纤维细胞的异核体。通过等电聚焦在患有TSD和SD儿童的成纤维细胞异核体中检测到己糖胺酶A。讨论了不同形式己糖胺酶的异质性数据以及同工酶根据杂交时间和指数的重建情况。强调遗传互补方法可用于确诊TSD和SD并进一步研究其异质性。