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.