Using PCR and PCR-single strand conformation polymorphism (SSCP) we have 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), and three (type 2) alleles, respectively. Three alleles were unique. Ten alleles (type 2, 5; type 3, 5) could not be identified. The genotypes, D409H/?, L444P/?, L444P/F213I, and F213I/?, were identified in three, three, two, and two patients, respectively. Six patients had a unique genotype and none of the mutant alleles could be identified in one patient. The data indicate that the genotypes in Japanese patients with neuropathic Gaucher disease are found to be heterogeneous and the genotype prevalence and mutated alleles are unique.
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