P-111: An Attempt to Facilitate the Production of Transgenic Mouse As A Model for Gene Therapy of Gaucher Disease

Background: Gaucher disease is an autosomal recessive inherited lysosomal storage disorder that affects many of the body's organs and tissues by defective function of the catabolic enzyme β-glucocerebrosidase. Gene therapy is one of the efficient ways for treatment of this disease. Due to the lack of appropriate animal models, in the field of gene therapy little progress has been done.Materials and Methods: In this study the 845 bp fragment of the GBA gene (mutant glucocerebrosidase gene) was transferred into the male pronucleous of mouse zygote by DNA pronucleous microinjection method Results: And then it was detected in blastocyste stage by PCR and RT-PCR. Conclusion: The finding has been reported the detection of transgene in mouse blastocyste for the first time in Iran, which will be instrumental both in developmental studies and in the generation of mouse models of human gene therapy in gaucher disease.