MUTATION PREVALENCE AMONG 47 UNRELATED JAPANESE PATIENTS WITH GAUCHER-DISEASE - IDENTIFICATION OF 4 NOVEL MUTATIONS

Utilizing PCR and PCR-SSCP analysis we investigated the prevalence of glucocerebrosidase gene mutations in 47 unrelated Japanese patients wi th Gaucher disease. Sixty alleles (63.8%) and 20 alleles (21.3%) were identified by analysis for common mutations and PCR-SSCP analysis, res pectively. The L444P and F213I mutations were common, accounting for 4 1 alleles (43.6%) and 14 alleles (14.9%). R496C, D409H, S366G and 1447 -1466 del ins TG mutations were identified in 5, 3, 3 and 3 alleles, r espectively. The other mutations were unique. In spite of vigorous scr eening, 14 alleles (14.9%) could not be identified. Four novel mutatio ns were identified by PCR-SSCP analysis: G189V, S366G, K413Q and R433G . These data indicate that besides the L444P mutation no other frequen t mutation is present and there is broad heterogeneity of the glucocer ebrosidase gene mutations in Japanese patients with Gaucher disease.