title: [Detection of the frequencies of GBA gene major mutations in patients with Gaucher disease in Ukraine].
abstract: 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.
authors.forename: N H
authors.initials: NH
authors.lastname: Horovenko
authors.forename: N V
authors.initials: NV
authors.lastname: Ol'khovych
authors.forename: A M
authors.initials: AM
authors.lastname: Nedoboĭ
authors.forename: N O
authors.initials: NO
authors.lastname: Pichkur
mesh_terms: D000483:Alleles; D002908:Chronic Disease; D005776:Gaucher Disease / Q000201:enzymology* / Q000235:genetics*; D005787:Gene Frequency; D005820:Genetic Testing; D005838:Genotype; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D009154:Mutation; D014455:Ukraine
chemical_list: D005962:Glucosylceramidase