Abstract
Tay-Sachs disease is a lipidosis due to the deficiency of the lysosomal hexosaminidase A. In order to understand the molecular mechanisms of this enzyme deficiency we studied 42 patients of different ethnic origins diagnosed in Europe. The strategy used consists in HEXA cDNA amplification followed by allele-specific oligonucleotide analysis for the frequent mutations, and by chemical cleavage mismatch and denaturing gradient gel electrophoresis for the detection of new mutations. 90% of alleles were clarified in this way, showing a high heterogeneity of HEXA lesions in Tay-Sachs disease. 28 different mutations were found, 20 being identified for the first time in this group of patients.
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Acknowledgements
We thank Dr. L. Lerman for kindly making the computer program available and Mrs Ajroldi for typing this manuscript. This work was supported by grants from A.F.M. (Association Française contre les Myopathies) and V.M.L. (Vaincre les Maladies Lysosomales).
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This work was coordinated at the Institut Cochin de Génétique Moléculaire, Paris, France.
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Akli, S., Boue, J., Sandhoff, K. et al. Collaborative Study of the Molecular Epidemiology of Tay-Sachs Disease in Europe. Eur J Hum Genet 1, 229–238 (1993). https://doi.org/10.1159/000472416
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DOI: https://doi.org/10.1159/000472416
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