Nedoboy A. Peculiarities of the biochemical manifestations and molecular genetic analysis in families with high probability of Gaucher's Disease

Levels of the normal activity of glucocerebrosidase and chitotriosidase were defined for the Ukrainian population. The frequencies of the genotypes for Ukrainian Gaucher disease (GD) carriers were determined. As the biochemical investigations have shown, the activity of the chitotriosidase can be a valid marker for Gaucher's disease diagnosis verification even if the glucocerebrosidase activity is rather high. Impossibility of using of the biochemical methods for the determination of the heterozygosity of the GD was proven. The results of the biochemical studies were confirmed by molecular-genetics methods in most cases.The screening of the major mutations in GBA gene was conducted for 27 patients from 26 families. Prevalence of the major mutations N370S and L444P were determined. The frequency of the major mutations in GBA gene was 58% for Ukrainian patients, while average European one is 65.1%. The analysis of the genotype-phenotype correlation was made. The Ukrainian patent of "Gaucher's disease diagnostics method" was taken out and was applied to the medical care practices as a departmental innovation.The diagnostics algorithm that allows verification of the Gaucher's disease diagnostics with the help of highly informative and low-cost biochemical methods has the big practical value during medical-genetic consulting of families aggravated with this pathology. The algorithm has been applied to the practices of the medical-genetics center of the UCSH "OHMATDIT".