[The molecular genetic diagnostic of Gaucher disease type I]

The Gaucher disease is a hereditary enzymopathy underlaid by deficiency of activity of acidic beta-glycosidase, a lysosomal enzyme participating in degradation of products of cell metabolism. The actual study was carried out to characterize genotypes of patients with Gaucher disease in the Russian Federation. The study group consisted of sampling of 122 adult patients with Gaucher disease type I. The technique of allele-specific polymerase chain reaction in real time was applied to screening for detection of four most frequent mutations of gene of acidic beta-glycosidase (N370S, 84GG, L444P, IVS2+ 1). The results of molecular genetic studies demonstrated that in Russian patients the most frequent is mutation N370S and genotype N370S/other mutation. The second allele is presented by mutation not included into number of most frequent mutations of gene of acidic beta-glycosidase.