Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease

A mutation profile and genotype/phenotype correlations in Gaucher's disease have been found. Mutations alone cannot entirely predict the expression phenotypically. Exhaustive screening of the acid beta-glucosidase gene was carried out using fluorescence-assisted mismatch analysis and universal primers and 25 subjects. For the mutation search an approach using association of a universal strand-specific labeling system and fluorescent chemical cleavage of mismatches was chosen, and 18 different mutations and a new glococerebrosidase haplotype were found. Genotyping has limitations for prognosis in view of the multifactorial regulation for the disease. Gaucher's disease is very prevalent vs all lysosomal storage disorders. It is a genetic disease that can now be treated. High molecular diversity is seen except in the community of Ashkenazi Jews.