Gaucher disease affects 20,000 individuals in the U.S. The gene frequency is particularly high in the Askenazic Jewish population, in which 1 out of 20 individuals is a carrier. It is more common than Tay-Sachs disease, for which a carrier test exists and has been successful. There is currently no heterozygote carrier test that is suitable for a Gaucher screening program. Stratagene proposes to determine the common gene mutations responsible for type I Gaucher disease. It plans to accomplish this project using a new gene cloning and sequencing technology. Once the common alleles have been sequenced, a panel of mutant- specific oligonucleotides will be synthesized for screening purposes. The objective is to develop a test, analogous to the Tay-Sachs carrier screening test, for Gaucher disease.
