High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews.

@article{Zimran1991HighFO,
  title={High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews.},
  author={Ari Zimran and Terri Gelbart and Beryl Westwood and Gregory A. Grabowski and Ernest Beutler},
  journal={American journal of human genetics},
  year={1991},
  volume={49 4},
  pages={855-9}
}
Reliable estimates of the frequency of Gaucher disease-producing mutations are not available. The high frequency of Gaucher disease in the Ashkenazi Jewish population is due to the occurrence of a mutation at nucleotide (nt) 1226. We have screened 593 DNA samples from normal Ashkenazi Jews, as well as 62 DNA samples from all our Ashkenazi Jewish patients with Gaucher disease, for the presence of the 1226 mutation. In the 593 presumed normal Ashkenazi Jewish individuals the 1226 mutation was… CONTINUE READING

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