DEVELOPMENT OF A CARRIER SCREENING TEST FOR GAUCHER DISEASE

GAUCHER DISEASE AFFECTS 20,000 INDIVIDUALS IN THE UNITED STATES. GENE FREQUENCY FOR THIS DISEASE IS PARTICULARLY HIGH IN THE ASHKENAZIC JEWISH POPULATION, IN WHICH 1 OUT OF 20 INDIVIDUALS IS A CARRIER. IT IS MORE COMMON THAN TAY-SACHS DISEASE, FOR WHICH A SUCCESSFUL CARRIER SCREENING PROGRAM EXISTS. THERE IS CURRENTLY NO HETEROZYGOTE CARRIER TEST THAT IS SUITABLE FOR A GAUCHER DISEASE SCREENING PROGRAM. STRATAGENE CLONING SYSTEMS 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 GENESEQUENCING TECHNOLOGY. ONCE THE COMMON ALLELES HAVEBEEN 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.