MUTATION SCREENING OF 17 JAPANESE PATIENTS WITH NEUROPATHIC GAUCHER DISEASE

Using PCR and PCR-single strand conformation polymorphism (SSCP) we ha ve identified gene mutations in 17 Japanese patients with neuropathic Gaucher disease (type 2, 9 cases; type 3, 8 cases). The L444P, F213I, D409H, and 1447 del 20 and 1447 ins TG mutations accounted for eight ( type 2, 6; type 3, 2), seven (type 2, 2; type 3, 5), three (type 3), a nd three (type 2) alleles, respectively. Three alleles were unique. Te n alleles (type 2, 5; type 3, 5) could not be identified. The genotype s, D409H/?, L444P/?, L444P/F213I, and F213I/?, were identified in thre e, three, two, and two patients, respectively. Six patients had a uniq ue genotype and none of the mutant alleles could be identified in one patient. The data indicate that the genotypes in Japanese patients wit h neuropathic Gaucher disease are found to be heterogeneous and the ge notype prevalence and mutated alleles are unique.