Disease Information

Genetics

The gene for acid beta-glucosidase, the defective protein/enzyme responsible for the deficiency in Gaucher disease, was identified and characterized in 1989. Analysis of this gene has led to the recognition of more than 60 gene alterations (mutations) that cause Gaucher disease. Four of these mutations account for about 90-95 percent of disease-causing changes among Jewish patients but for only 50-75 percent of the mutations among non-Jewish people. The use of molecular genetic analysis in patients to identify the exact error in the acid beta-glucosidase gene (the patient's "genotype") can, in general, be used as an aid in predicting the severity of involvement (the patient's "phenotype").