Major mutation p.His281Tyr in Gene GLB1 in patients with GM1-gangliosidosis in Ukraine
- Authors: Mytsyk N.Y.1, Olkhovych N.V.1, Gorovenko N.G.1
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Affiliations:
- Institute of Genetic and Regenerative Medicine
- Issue: Vol 51, No 4 (2017)
- Pages: 263-267
- Section: Article
- URL: https://journals.rcsi.science/0095-4527/article/view/173647
- DOI: https://doi.org/10.3103/S0095452717040041
- ID: 173647
Cite item
Abstract
Mutation analysis of gene GLB1 in 26 patients from different regions of Ukraine diagnosed with GM1-gangliosidosis identified 15 pathogenic mutations. The most common was missense mutation p.His281Tyr (c.841C>T) in exon 8, which was found in at least one allele in 16 of 26 patients (61.5%), accounting for 20 of 52 (38.5%) mutant alleles. Mutation p.His281Tyr (c.841C>T) was described in rare cases in patients from Germany, Italy, and Portugal, while no alleles with such a replacement were found in other countries. This may indicate a much higher frequency of this mutation in Ukraine compared to other countries. Analysis of the information about the spatial distribution of the families with mutation p.His281Tyr (c.841C>T) revealed that most of the alleles with this mutation (14 of 20 or 70%) were found in patients from the western regions of the country, which may be due to the founder effect.
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About the authors
N. Y. Mytsyk
Institute of Genetic and Regenerative Medicine
Author for correspondence.
Email: mytcyk_nat@ukr.net
Ukraine, Kyiv, 04114
N. V. Olkhovych
Institute of Genetic and Regenerative Medicine
Email: mytcyk_nat@ukr.net
Ukraine, Kyiv, 04114
N. G. Gorovenko
Institute of Genetic and Regenerative Medicine
Email: mytcyk_nat@ukr.net
Ukraine, Kyiv, 04114