TSitologiya i Genetika 2017, vol. 51, no. 4, 33-38
Cytology and Genetics , vol. , no. , , doi: https://www.doi.org/

Major mutation p.His281Tyr in the gene GLB1 in patients with GM1-gangliosidosis in Ukraine

Mytsyk N.Y., Olkhovych N.V., Gorovenko N.G.

SUMMARY. GM1-gangliosidosis is a severe neurodegenerative disorder with autosomal recessive mode of inheritance. The disorder is related to acid beta-galactosidase deficiency, which is conditioned by mutations in gene GLB1. The deficiency of acid beta-galactosidase re-sults in the accumulation of GM1-ganglioside in cell lysosomes, which leads to the development of a severe neurodegenerative disorder in patients. The analysis of mutations in gene GLB1 was conducted for 26 patients from Ukraine, diagnosed with GM1-gangliosidosis. SSCP, PCR, and Sanger exon sequencing of gene GLB1 were used for the analysis. The mutation analysis of gene GLB1 in 26 Ukrainian patients, diagnosed with GM1-gangliosidosis, revealed 15 pathogenic mutations in different exons. The most frequent mutation was missense mutation p.His281Tyr in exon 8, which was found in 16 out of 26 patients – 4 patients had it in homozygous state and 12 – in heterozygous state, which amounted to 38,5 % of all the mutations revealed. All patients with this mutation had the infantile form of GM1-gangliosidosis with severe neurological symptoms. The mutation analysis of gene GLB1 in patients from Ukraine with GM1-gangliosidosis demonstrated that, contrary to other populations, missense mutation p.His281Tyr is highly frequent among Ukrainian pati-ents (38,5 %) and may be considered as the major mutation for this population.

Keywords: GM1-gangliosidosis, gene GLB, β-galactosidase, p.His281Tyr

TSitologiya i Genetika
2017, vol. 51, no. 4, 33-38

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