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Journal of Inherited Metabolic Disease

, Volume 17, Issue 1, pp 85–88 | Cite as

The N370S mutation in the glucocerebrosidase gene of Portuguese type 1 Gaucher patients: Linkage to the PvuII polymorphism

  • L. Lacerda
  • O. Amaral
  • R. Pinto
  • J. Aerts
  • M. C. Sá Miranda
Article

Summary

The mutation N370S accounts for 63% of the mutated glucocerebrosidase alleles of Portuguese type 1 Gaucher patients. It has been shown previously that this mutation is linked to the Pv1.1 form of the PvuII polymorphism and suggested that the N370S mutation in glucocerebrosidase alleles has an Ashkenazi Jewish origin. We have found that in Portuguese type 1 Gaucher patients this mutation is also invariably associated with the Pv1.1 haplotype, despite the fact that there is no evidence of Ashkenazi Jewish background in this population.

Keywords

Public Health Internal Medicine N370S Mutation Gauche Patient Jewish Origin 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© SSIEM and Kluwer Academic Publishers 1994

Authors and Affiliations

  • L. Lacerda
    • 1
  • O. Amaral
    • 1
  • R. Pinto
    • 1
  • J. Aerts
    • 2
  • M. C. Sá Miranda
    • 1
  1. 1.Instituto de Genética Médica Jacinto de MagalhaesPortoPortugal
  2. 2.E.C. Slater Institute for Biochemical ResearchUniversity of AmsterdamAmsterdamThe Netherlands

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