medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2025.07.54-56medgen-3077Research ArticleКРАТКИЕ СООБЩЕНИЯBRIEF REPORTТестирование часто встречающихся мутаций гена рецептора липопротеинов низкой плотности (LDLR), вызывающих семейную гиперхолестеринемию в Санкт-ПетербургеTesting of common mutations of the low-density lipoprotein receptor (LDLR) gene causing familial hypercholesterolemia in St. PetersburgМандельштамМ. Ю.MandelshtamM. Y.

197022, г. Санкт-Петербург, ул. академика Павлова, д.12

12, Akademika Pavlova st., St. Petersburg, 197022

ЗахароваФ. М.ZakharovaF. M.

197022, г. Санкт-Петербург, ул. академика Павлова, д.12

12, Akademika Pavlova st., St. Petersburg, 197022

ФГБНУ Институт экспериментальной медициныРоссияInstitute of Experimental MedicineRussian Federation2025290920252475456Copyright © Мандельштам М.Ю., Захарова Ф.М., 20252025Мандельштам М.Ю., Захарова Ф.М.Mandelshtam M.Y., Zakharova F.M.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/3077

Предложены быстрые методы тестирования двух мажорных мутаций Cys139Gly и G219del при семейной гиперхолестеринемия в Петербурге с использованием рестрикционного и гетеродуплексного анализа.

Rapid methods of testing two major mutations Cys139Gly and G219del in familial hypercholesterolemia (FH) in St. Petersburg using restriction and heteroduplex analysis are proposed.

семейная гиперхолестеринемиясердечно-сосудистые заболеванияпатогенные вариантыген рецептора липопротеинов низкой плотностибыстрые методы тестированияДНК-диагностикаfamilial hypercholesterolemiacoronary heart diseasepathogenic variantslow density lipoprotein receptor generapid testing methodsDNA diagnosticsРабота выполнена в рамках государственных заданий Министерства науки и высшего образования РФ: НИР № FGWG2025-0021.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.ReferencesMeshkov A.N., Ershova A.I.., Kiseleva AV. et al. On behalf of the FHESSE-RF Investigators. The prevalence of heterozygous familial hypercholesterolemia in selected regions of the Russian Federation: The FH-ESSE-RF study. J Pers Med. 2021;11(6):464. doi:10.3390/jpm11060464.Meshkov A.N., Ershova A.I.., Kiseleva AV. et al. On behalf of the FHESSE-RF Investigators. The prevalence of heterozygous familial hypercholesterolemia in selected regions of the Russian Federation: The FH-ESSE-RF study. J Pers Med. 2021;11(6):464. doi:10.3390/jpm11060464.Мандельштам М.Ю.., Масленников АБ. Изучение молекулярной генетики семейной гиперхолестеринемии в России. Молекулярно-биологические технологии в медицинской практике (под ред. А.Б.Масленникова). Новосибирск: Издательский дом «Манускрипт», 2001:58-64.Mandelstam M.Yu., Maslennikov A.B. Izucheniye molekulyarnoy genetiki semeynoy giperkholesterinemii v Rossii. Molekulyarnobiologicheskiye tekhnologii v meditsinskoy praktike (pod red. A.B.Maslennikova) [Study of molecular genetics of familial hypercholesterolemia in Russia. Molecular biological technologies in medical practice (ed. by A.B. Maslennikov)]. Novosibirsk: Izdatel’skiy dom «Manuskript» [Novosibirsk: Publishing house «Manuscript»]. 2001:58-64. (In Russ.)Meshkov A., Ershova A.., Kiseleva A et al. The LDLR, APOB, and PCSK9 variants of index patients with familial hypercholesterolemia in Russia. Genes, 2021;66. doi:10.3990/genes12010066.Meshkov A., Ershova A.., Kiseleva A et al. The LDLR, APOB, and PCSK9 variants of index patients with familial hypercholesterolemia in Russia. Genes, 2021;66. doi:10.3990/genes12010066.Chakir Kh., Skobeleva N.A., Shevtsov S.P. et al. Two novel Slavic point mutations in the low density lipoprotein receptor gene in patients with familial hypercholesterolemia from St. Petersburg, Russia. Mol. Genet. Metab. 1998;63,31–34. doi: 10.1006/mgme.1997.2614Chakir Kh., Skobeleva N.A., Shevtsov S.P. et al. Two novel Slavic point mutations in the low density lipoprotein receptor gene in patients with familial hypercholesterolemia from St. Petersburg, Russia. Mol. Genet. Metab. 1998;63,31–34. doi: 10.1006/mgme.1997.2614Mandelshtam M., Chakir Kh., Shevtsov S. et al. Prevalence of Lithuanian mutation among St. Petersburg Jews with familial hypercholesterolemia. Hum. Mutat. 12, 1998;255–258. doi: 10.1002/ (sici)1098-1004(1998)12:43.0.co;2-eMandelshtam M., Chakir Kh., Shevtsov S. et al. Prevalence of Lithuanian mutation among St. Petersburg Jews with familial hypercholesterolemia. Hum. Mutat. 12, 1998;255–258. doi: 10.1002/ (sici)1098-1004(1998)12:43.0.co;2-eMeiner V., Landsberger D., Berkman N. et al. A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews. Am. J. Hum. Genet. 1991; 49, 443–449.Meiner V., Landsberger D., Berkman N. et al. A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews. Am. J. Hum. Genet. 1991; 49, 443–449.Durst R.., Colombo R, Shpitzen S. et al. Recent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: positive selection is not always necessary to account for disease incidence among Ashkenazi Jews. Am. J. Hum. Genet. 2001;68, 1172–1188. doi: 10.1086/320123Durst R.., Colombo R, Shpitzen S. et al. Recent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: positive selection is not always necessary to account for disease incidence among Ashkenazi Jews. Am. J. Hum. Genet. 2001;68, 1172–1188. doi: 10.1086/320123

The authors declare that there are no conflicts of interest present.