Frequency of the Tay-Sachs disease splice and insertion mutations in the UK Ashkenazi Jewish population.

@article{Landels1991FrequencyOT,
  title={Frequency of the Tay-Sachs disease splice and insertion mutations in the UK Ashkenazi Jewish population.},
  author={Eleanor C Landels and Ian H Ellis and Anthony H. Fensom and P. M. Green and Martin Bobrow},
  journal={Journal of medical genetics},
  year={1991},
  volume={28 3},
  pages={177-80}
}
Tay-Sachs disease is a lethal neurodegenerative disorder caused by deficiency of the lysosomal enzyme beta-hexosaminidase A and inherited in an autosomal recessive fashion; carriers of the disease are 10 times more frequent in the Ashkenazi Jewish community than in the general population. Over 90% of North American Ashkenazi carriers tested have been shown to have either a splice site mutation at the boundary of exon 12 and intron 12 in the beta-hexosaminidase alpha subunit gene, or a 4 base… CONTINUE READING

References

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Identification of an altered splice site in Ashkenazi Tay - Sachs disease

E Arpaia, A Dunbrille-Ross, T Maler
Nature • 1988

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