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Testing of common mutations of the low-density lipoprotein receptor (LDLR) gene causing familial hypercholesterolemia in St. Petersburg
https://doi.org/10.25557/2073-7998.2025.07.54-56
Abstract
Rapid methods of testing two major mutations Cys139Gly and G219del in familial hypercholesterolemia (FH) in St. Petersburg using restriction and heteroduplex analysis are proposed.
Keywords
familial hypercholesterolemia,
coronary heart disease,
pathogenic variants,
low density lipoprotein receptor gene,
rapid testing methods,
DNA diagnostics
Supporting agencies: The work was carried out within the framework of the state assignments of the Ministry of Science and Higher Education of the Russian Federation: Research project No. FGWG-2025-0021.
About the Authors
M. Y. Mandelshtam
Institute of Experimental Medicine
Russian Federation
Russian Federation
12, Akademika Pavlova st., St. Petersburg, 197022
F. M. Zakharova
Institute of Experimental Medicine
Russian Federation
Russian Federation
12, Akademika Pavlova st., St. Petersburg, 197022
References
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Review
For citations:
Mandelshtam M.Y., Zakharova F.M. Testing of common mutations of the low-density lipoprotein receptor (LDLR) gene causing familial hypercholesterolemia in St. Petersburg. Medical Genetics. 2025;24(7):54-56. (In Russ.) https://doi.org/10.25557/2073-7998.2025.07.54-56
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