Determining the frequency of common mutations in the GBA gene in patients with Gaucher disease in Ukraine

作者：Gorovenko N G^*; Ol'Khovich N V; Nedoboy A M; Pichkur N O

来源：Cytology and Genetics, 2007, 41(4): 230-236.

DOI：10.3103/S009545270704007X

A molecular-genetics investigation is conducted on 27 patients from 26 families. Common mutations in the GBA gene (N370S, L444P, and 84GG) are studied. The overall frequency of the common mutations is nearly 58%, with the percentage of alleles that carry the N370S mutation close to 42.3% and the proportion that carry the L444P mutation, 15.4%. No allele containing the 84GG mutation was found. Besides other mutations, the rare mutations P178S, W184R, and Rec Nci I (together with N370S) were also found in the GBA gene in patients with the nonneuronopathic form of the disease, along with the genotypes G377S/c 999GA and D409H/R120W/G202R in patients with the chronic neuronopathic form. An analysis of the correlation between the genotype and the course of the disease in the patients showed that the genotype-phenotype correlations were close to that described for European populations.

• 出版日期2007-8