Abstract

Gaucher disease is the most prevalent lysosomal storage disease. Recent data confirmed its high frequency in Romanian population, too. 12 Gaucher patients have been identified so far in Romania, by specific enzyme assays  followed by the screening of the most prevalent mutations: N370S, L444P, 84GG and R463C. Samples containing the L444P mutation have been further analysed by automatic sequencing, for the characterisation of mutations D409H, A456P, V460V, which have been described either alone or in association, generating the recombinant alleles recNciI and recTL. We describe here a computer programme designed for the rapid analysis of the amplified DNA sequences and genotype assignment.

Keywords

Gaucher disease, Recombinant alleles, Sequence analysis, Genotype-phenotype correlations.