The dup 24-bp duplication in chitotriosidase gene CHIT1 in healthy persons and in patients with Gaucher disease in Ukraine

  • N. V. Olhovych RC Institute for Genetic and Regenerative Medicine, NAMS of Ukraine, Ukraine, 04114, Vyshgorodskaya str., 67National Children's Specialized Hospital "OKHMATDYT"Ukraine, 01135, Kyiv, Chornovola str., 28/1


The aim of our work was to evaluate the prevalence of chitotriosidase deficiency in the population of Ukraine by determining the frequency of dup 24 bp in the CHIT1 gene in healthy subjects and in patients with Gaucher disease type I to develop approaches for optimizing laboratory diagnosis of this disease and monitoring of enzyme replacement therapy. Methods. Chitotriosidase activity in plasma was evaluated by degradation of fluorogenic substrate 4 metylumbellyferyl-triacetylchitotrioside. Dup 24 bp in exon 10 of the CHIT1 gene was determined by PCR. Results. Allele frequency of dup 24 bp in the CHIT1 gene in patients with Gaucher disease type I from Ukraine was 11.6 % (13/112). Allele frequency of dup 24 bp in the CHIT1 gene in the population of Ukraine was 25.9 % (323/1244), which is consistent with the data on the frequency of this genetic variant in other European populations. Conclusions. Molecular genetic screening for dup 24 bp in the gene CHIT1 is a necessary stage of laboratory diagnosis of Gaucher disease to avoid false negative diagnosis of the disease. For patients with Gaucher disease, who are carriers of the dup 24 bp in the CHIT1 gene, it is necessary to use other biomarkers for monitoring of the effectiveness of enzyme replacement therapy.

Keywords: chitotriosidase, Gaucher disease, chitotriosidase deficiency, CHIT1 gene polymorphisms.


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