DEVELOPING AND EVALUATING TEST KIT FOR WILSON’S DISEASE PREVENTION AND DIAGNOSTICS
https://doi.org/10.35266/2949-3447-2026-1-11
Abstract
The purpose of the study is to develop and evaluate a test kit for detecting mutations in the ATP7B gene, i.e. the indicators of Wilson's disease, which are prevalent in Russia. Considering peculiarities of the Russian population, the paper includes the selection of 9 most frequently identified pathogenic gene variants, which contributes to the effective diagnostics of the aforementioned genetic disorder in the country. To detect the mutations, the authors create a molecular genetic test kit. It comprises a set of specific primers for targeted gene fragment amplification via polymerase chain reaction with subsequent Sanger sequencing or restriction analysis for variant identification. The conducted verification demonstrates high diagnostics accuracy, reliability, and applicability of the designed test kit, which enable its use by researchers in scientific and medical studies.
Supporting agencies: Hethe research was funded by the Research Institute of Obstetrics, Gynecology and Reproductology named after D. O. Ott as part of basic research No. 1025032300170-0 "Programma universalnogo molekulyarno-geneticheskogo skrininga nasledstvennykh monogennykh zabolevaniy u budushchikh roditeley pri planirovanii beremennosti na munitsipalnom, regionalnom i federalnom urovnyakh".
About the Authors
A. A. Basipova
Research Institute of Obstetrics, Gynecology and Reproductology named after D. O. Ott, Saint Petersburg
Russian Federation
Russian Federation
Junior Researcher
M. M. Danilova
Research Institute of Obstetrics, Gynecology and Reproductology named after D. O. Ott, Saint Petersburg
Russian Federation
Russian Federation
Laboratory Technician
Yu. A. Nasykhova
Research Institute of Obstetrics, Gynecology and Reproductology named after D. O. Ott, Saint Petersburg
Russian Federation
Russian Federation
Candidate of Sciences (Biology), Head of Genomics Laboratory
A. S. Glotov
Research Institute of Obstetrics, Gynecology and Reproductology named after D. O. Ott, Saint Petersburg
Russian Federation
Russian Federation
Doctor of Sciences (Biology), Head of Genomic Medicine
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Review
For citations:
Basipova A.A., Danilova M.M., Nasykhova Yu.A., Glotov A.S. DEVELOPING AND EVALUATING TEST KIT FOR WILSON’S DISEASE PREVENTION AND DIAGNOSTICS. Vestnik SurGU. Meditsina. 2026;19(1):88-94. (In Russ.) https://doi.org/10.35266/2949-3447-2026-1-11
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