Identification of Gaucher disease carriers: glucocerebrosidase antigen and DNA analysis

Detection of Portuguese carriers for Gaucher disease with urine samples as a source of enzyme was carried out using an immunological procedure employing an anti-glucocerebrosidase monoclonal antibody and by DNA analysis for the presence of the two glucocerebrosidase mutations most frequently found in Portuguese Gaucher patients. Patients, obligate and putative carriers, and individuals unrelated to patients were analyzed. It was found that the vast majority of carriers for the two tested mutations (N370S and L444P), as well as obligate carriers for as yet unidentified mutations, could be distinguished from control subjects with this relatively easy and economic immunological procedure. Furthermore, results obtained for control subjects suggested a high frequency of carriers for the N370S mutation in the Portuguese population. It is concluded that this procedure may be useful in mass screening for carrier detection prior to DNA analysis, particularly in the study of non-Ashkenazi populations in which a significant number of mutations associated with Gaucher disease remain unidentified.