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

Horovenko, N.H.; Ol'khovych, N.V.; Nedoboĭ, A.M.; Pichkur, N.O.

Tsitologiia i Genetika 41(4): 41-47

2007

ISSN/ISBN: 0564-3783
PMID: 18030725
Document Number: 611873
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.

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