Gorovenko N.G., Olkhovich N.V., Nedoboy A.M., Pichkur N.O.

Detection of the frequencies of GBA gene major mutations in Ukrainian Gaucher disease patients

Cytology and Genetics 2007, v 41, number 4, 41-47

The molecular diagnostics of 27 from 26 Ukrainian families has been performed. The common mutations in GBA gene (N370S, L444P and 84GG) accounted for up to 58% of all cases: mutation N370S was detected in 42,3% alleles, mutation L444P was observed in 15,4% alleles and mutation 84GG was not found at all. The other mutations were: P178S, W184R and Rec Nci I (in compounds with N370S) in the patients with nonneuronopathic form of Gaucher disease, and the genotypes G377S/c 999G→A and D409H/R120W/G202R were detected in patients with chronic neuronopathic form of Gaucher disease. The data analysis of the genotype and disease progression in the patients allows confirming the known genotype-phenotype correlation.

Key words: Gaucher disease, biochemical diagnostics, molecular diagnostics, common mutations in GBA gene