THE N370S MUTATION IN THE GLUCOCEREBROSIDASE GENE OF PORTUGUESE TYPE-1 GAUCHER PATIENTS - LINKAGE TO THE PVUII POLYMORPHISM

The mutation N370S accounts for 63% of the mutated glucocerebrosidase alleles of Portuguese type 1 Gaucher patients. It has been shown previ ously that this mutation is linked to the Pvl.l(-) form of the PvuII p olymorphism and suggested that the N370S mutation in glucocerebrosidas e alleles has an Ashkenazi Jewish origin. We have found that in Portug uese type I Gaucher patients this mutation is also invariably associat ed with the Pvl.l haplotype, despite the fact that there is no evidenc e of Ashkenazi Jewish background in this population.