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Results of GALT gene common mutations testing at the Tomsk Research Institute of Medical Genetics
https://doi.org/10.25557/2073-7998.2025.09.119-121
Abstract
The analysis of frequent pathogenic variants of the GALT gene was carried out over 4.5 years in children with galactosemia, suspected galactosemia, including newborns with elevated or borderline level of total galactose. One prenatal diagnosis case was performed. A total of 36 (33 unrelated) children and 18 parents were examined. In one galactosemia I case, a single homozygous genotype for p.Gln188Arg was identified. Other genotypecases with two identified variants were combinations with the Duarte D2 variant. In 30.3% of cases, one allele remained undetected, in 15.2% – both. The allele frequency was: p.Gln188Arg – 33,9%, p.Lys285Asn – 5,4% and Duarte D2 variant – 41,1%.
Supporting agencies: The work was performed within the framework of the state assignment of the Ministry of Education and Science of the Russian Federation ( Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences).
About the Authors
E. V. Soloveva
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
Elena V. Soloveva
10, Naberejnaya Ushaiki, Tomsk, 634050
M. M. Skleimova
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
A F. Garaeva
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
L. I. Minaycheva
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
O. A. Salukova
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
S. L. Vovk
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
L. I. Didenko
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
A. A. Nikitina
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
G. N. Seitova
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
References
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Review
For citations:
Soloveva E.V., Skleimova M.M., Garaeva A.F., Minaycheva L.I., Salukova O.A., Vovk S.L., Didenko L.I., Nikitina A.A., Seitova G.N. Results of GALT gene common mutations testing at the Tomsk Research Institute of Medical Genetics. Medical Genetics. 2025;24(9):119-121. (In Russ.) https://doi.org/10.25557/2073-7998.2025.09.119-121
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