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

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

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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

Tsitologiya i Genetika 2007, vol. 41, no. 4, pp. 41-47

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, Tsitol Genet., 2007, vol. 41, no. 4, pp. 41-47.