Linkage of the PvuII polymorphism with the common Jewish mutation for Gaucher disease.

@article{Zimran1990LinkageOT,
  title={Linkage of the PvuII polymorphism with the common Jewish mutation for Gaucher disease.},
  author={Ari Zimran and Terri Gelbart and Ernest A. Beutler},
  journal={American journal of human genetics},
  year={1990},
  volume={46 5},
  pages={
          902-5
        }
}
We have localized the PvuII polymorphism of the glucocerebrosidase gene complex to intron 6 of the active gene. Using the polymerase chain reaction (PCR) to amplify intron 6 of DNA samples from Pv1.1-/Pv1.1+ individuals, we defined the mutation causing this polymorphism as a G----A single-base substitution at position 3931 of the active gene. By analyzing 54 unrelated Gaucher patients we show strong linkage disequilibrium between the Pv1.1- genotype and the common Jewish mutation 1226 causing… CONTINUE READING

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