Analysis of glucocerebrosidase (GBA) gene mutations in Iranian patients with Gaucher disease.

OBJECTIVES: ) gene and leads to GBA deficiency. Different mutations are associated with different phenotypes in the three major types of GD. MATERIALS AND METHODS: analysis was also performed for novel mutations. RESULTS: mutation in the population was p.L483P with an allele frequency of 32.7%, followed by p.N409S (19.2%). CONCLUSION: gene among GD patients. Two mutations (p.L483P and p.N409S) were especially common among Iranians; this finding can be used in implementing screening programs and understanding the molecular basis of GD.