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Characterization of α-galactosidase isoenzymes in normal and fabry human-Chinese hamster somatic cell hybrids

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Summary

The α-galactosidases in normal man-Chinese hamster somatic cell hybrids were investigated with antibodies specific for human α-galactosidase A and antibodies specific for Chinese hamster α-galactosidase. It was found that an isoenzyme in hybrid cells, which has an electrophoretic mobility between that of human α-galactosidase A and Chinese hamster α-galactosidase, contains immunologic determinants of both human and Chinese hamster origin, suggesting that it is a heteropolymeric molecule. Moreover, the locus for human α-galactosidase, which was found to be X-linked, is the locus coding for α-galactosidase A. Hybrids isolated after fusion of Chinese hamster cells with cells of a patient with Fabry's disease did not express human α-galactosidase A or the heteropolymeric molecule even in the presence of the active human X chromosome, indicating that the deficiency of α-galactosidase A in Fabry's disease is probably due to a mutation in a structural gene resulting in the inability to form immunologically detectable and functionally active molecules of α-galactosidase A.

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Hamers, M.N., Westerveld, A., Khan, M. et al. Characterization of α-galactosidase isoenzymes in normal and fabry human-Chinese hamster somatic cell hybrids. Hum Genet 36, 289–297 (1977). https://doi.org/10.1007/BF00446279

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Keywords

  • Internal Medicine
  • Metabolic Disease
  • Somatic Cell
  • Structural Gene
  • Electrophoretic Mobility