In memoriam of Evgeny Iosifovich Schwartz

Cover Page

Cite item

Full Text

Open Access Open Access
Restricted Access Access granted
Restricted Access Subscription Access

Abstract

E.I. Schwartz stood at the foundation of Russian molecular genetics: he was the first to apply the novel method of polymerase chain reaction (PCR) in this country. E.I. Schwartz graduated from the LPMI at 1967. His area of research belonged at first to the realm of the metabolic manifestations of hereditary diseases. Since 1985, he began working at the Laboratory of Molecular Genetics, Leningrad Institute of Nuclear Physics (LINP). Shortly thereafter, E.I. Schwartz began to reproduce and implement the PCR, recently proposed by K. Mullis. Coincidentally, the seemingly purely fundamental studies of thermostable polymerase, which turned out to be the key PCR enzyme, had been independently conducted in LINP and contributed to the success of E.I. Schwartz undertaking. He also initiated the development of the first Russian thermocyclers. He implemented PCR in fruitful long-term research projects on the molecular epidemiology of monogenic diseases: phenylketonuria, familial hypercholesterolemia, hereditary disorders of hemostasis, etc. E.I. Schwartz optimized the methods of isolating nucleic acids from dried blood spots and other sources, “suboptimal” for a laboratory specialist, but ideal for screening and forensic practice. Another field of his research was to elucidate the role of polymorphic alleles in multifactorial diseases. E.I. Schwartz enthusiastically propagated the new molecular approaches among clinicians and laboratory geneticists: he established close and fruitful collaborations between specialists of the vastly divergent backgrounds. In 1989 E.I. Schwartz founded the Department of Medical Genetics of LPMI, which was one of the first such departments in U.S.S.R. In 2001, he founded the Department of Molecular Genetic Technologies in I.P. Pavlov`s St. Petersburg State Medical University. In 2003, E.I. Schwartz has passed away, leaving behind him the good memory of numerous students and successors of his work

About the authors

Victoria N. Gorbunova

St. Petersburg State Pediatric Medical University, Ministry of Healthcare of the Russian Federation

Author for correspondence.
Email: vngor@mail.ru

PhD, Professor, Department of Medical Genetics

Russian Federation, Saint Petersburg

References

  1. Беркович О.А., Баженова Е.А., Волкова Е.В., и др. А1166С полиморфизм гена рецептора 1 типа ангиотеногена II и дисфункция эндотелия у мужчин, перенесших инфаркт миокарда в молодом возрасте // Российский кардиологический журнал. – 2000. – Т. 5. – № 6. – С. 5–9. [Berkovich OA, Bazhenova EA, Volkova EV, et al. A1166C polymorphism of the gene for angiotensin ii receptor 1st type and endothelial dysfunction in men with a history of myocardial infarction in young age. Russian journal of cardiology. 2000;5(6):5-9. (In Russ.)]
  2. Беркович О.А., Баженова Е.А., Волкова Е.В., и др. I/D полиморфизм гена ангиотензинпревращающего фермента у мужчин, перенесших инфаркт миокарда // Российский физиологический журнал им. И.М. Сеченова. – 2001. – Т. 87. – № 5. – С. 642–648. [Berkovich OA, Bazhenova EA, Volkova EV, et al. I/D polymorphism in the angiotensin-converting enzyme gene in men with myocardial infarction at young age. Russian journal of physiology. 2001;87(5):642-648. (In Russ.)]
  3. Вавилова Т.В., Сироткина О.В., Кадинская М.И., и др. Структурные полиморфизмы гена CYP2C9 и их значение в профилактике тромбоэмболических осложнений варфарином у больных с искусственными клапанами сердца // Ученые записки Санкт-Петербургского государственного медицинского университета им. акад. И.П. Павлова. – 2003. – Т. 10. – № 4. – С. 40–46. [Vavilova TV, Sirotkina OV, Kadinskaya MI, et al. Strucural polymorphisms in CYP2C9 gene and their significance in the prophylaxis of thromboembolic complcations in patients with artificial heart valves. The Scientific notes of the I.P. Pavlov St. Petersburg State medical university. 2003;10(4):40-46. (In Russ.)]
  4. Гольцов А.А., Сурин В.Л., Лукьяненко А.В., и др. Характер двух мутационных повреждений β-глобинового гена при β0-талассемии в Азербайджане // Биоорганическая химия. – 1989. – Т. 15. – № 7. – С. 1001–1002. [Gol’tsov AA, Surin VL, Luk’yanenko AV, et al. The nature of the two mutational lesions of the β-globin gene in β0-thalassemia in Azerbaijan. Russian journal of bioorganic chemistry. 1989;15(7):1001-1002. (In Russ.)]
  5. Горбунова В.Н. Молекулярная генетика — путь к индивидуальной персонализированной медицине // Педиатр. – 2013. – Т. 4. – № 1. – C. 115–121. [Gorbunova VN. Molecular genetics – a way to the individual personalized medicine. Pediatr. 2013;4(1):115-121. (In Russ.)]. https://doi.org/10.17816/PED41115-121.
  6. Горбунова В.Н., Баранов В.С. Введение в молекулярную диагностику и генотерапию наследственных заболеваний: учебное пособие для студентов медицинских вузов. – СПб., 1997. – 287 c. [Gorbunova VN, Baranov VS. Vvedenie v molekulyarnuyu diagnostiku i genoterapiyu nasledstvennykh zabolevaniy: uchebnoe posobie dlya studentov meditsinskikh vuzov. Saint Petersburg; 1997. 287 p. (In Russ.)]
  7. Данилова Л.А., Башарина О.Б., Красникова Е.Н., др. Справочник по лабораторным методам исследования / Под ред. Л.А. Даниловой. – М.: Питер, 2003. – 733 с. [Danilova LA, Basharina OB, Krasnikova EN, et al. Spravochnik po laboratornym metodam issledovaniya. Ed. by L.A. Danilovа. Moscow: Piter; 2003. 733 p. (In Russ.)]
  8. Демидова Д.В., Ларионова В.И., Волкова М.В., и др. Анализ влияния структуры генов липопротеиновой липазы, аполипопротеинов СIII и аполипопротеина Е на развитие комбинированной гиперлипидемии // Кардиология. – 2001. – T. 41. – № 8. – С. 17–22. [Demidova DV, Larionova VI, Volkova MV, et al. The analysis of the lipoprotein lipase, apolipoprotein СIII and apolipoprotein E gene structure impact on the development of the combined hyperlipidemia. Kardiologiya. 2001;41(8):17-22. (In Russ.)]
  9. Нефедова Ю.Б., Шварц Е.И. Молекулярно-генетические механизмы развития артериальной гипертензии // Артериальная гипертензия. – 1998. – T. 4. – № 3. – C. 63–71. [Nefedova YuB, Shvarts EI. Molekulyarno-geneticheskie mekhanizmy razvitiya arterial’noi gipertenzii. Arterial hypertension. 1998;4(3):63–71. (In Russ.)]
  10. Папаян Л.П., Кобелянская В.А., Шейдина А.М., и др. Изменения в системе гемостаза у больных с наследственной тромбофилией, обусловленной мутацией фактора V свертывания крови (фактор V Лейден) // Терапевтический архив. – 2001. – Т. 73. – № 7. – С. 47–51. [Papayan LP, Kobelyanskaya VA, Sheydina AM, et al. The changes of the hemostatic system in patients with hereditary thrombophilia, caused by the mutation of factor V of the blood coagulation (factor V Leiden). Therapeutic archive. 2001;73(7):47-51. (In Russ.)]
  11. Скрябин Б.В., Ковальчук Л.А., Хальчицкий С.Е., и др. Определение природы мутационного повреждения в 12-м экзоне фенилаланингидроксилазного гена у больных фенилкетонурией // Биоорганическая химия. – 1989. – Т. 15. – № 12. – С. 1690–1692. [Skryabin BV, Koval’chuk LA, Khal’chitskiy SE, et al. The evaluation of the nature of the mutational lesion in the exon 12 of the phenylalanine hydroxylase gene in patients with phenylketonuria. Russian journal of bioorganic chemistry. 1989;15(12):1690-1692. (In Russ.)]
  12. Хальчицкий С.Е., Ищенко И.Д., Гольцов А.А., и др. Конструирование и характеристика к ДНК-овой клонотеки эмбриональной печени человека на основе бактериофага &л dt10. – Л.: ЛИЯФ, 1987. – 19 с. [Hal’chitskiy SE, Ishchenko ID, Gol’tsov AA, et al. Konstruirovanie i kharakteristika k DNK-ovoy klonoteki embrional’noy pecheni cheloveka na osnove bakteriofaga &л gt10. Leningrad: LIYAF; 1987. 19 p. (In Russ.)]
  13. Хальчицкий С.Е. Евгений Иосифович Шварц и первая ПЦР в СССР // Молекулярные основы клинической медицины — возможное и реальное: сборник материалов 3-го Российского конгресса с международным участием, 26–29 марта 2015 г. – СПб., 2015. – С. 25–29. [Khal’chitskii SE. Evgenii Iosifovich Shvarts i pervaya PTSR v SSSR. (Conference proceedings) Molekulyarnye osnovy klinicheskoi meditsiny — vozmozhnoe i real’noe: sbornik materialov 3-go Rossiiskogo kongressa s mezhdunarodnym uchastiem, 2015 March 26–29. Saint Petersburg; 2015. C. 25-29. (In Russ.)]
  14. Шварц Е.И. Нарушения углеводного метаболизма в мышечной ткани больных миодистрофией Дюшенна. – Л., 1971. – 20 c. [Shvarts EI. Narusheniya uglevodnogo metabolizma v myshechnoy tkani bol’nykh miodistrofiey Dyushenna. Leningrad; 1971. 20 p. (In Russ.)]
  15. Шварц Е.И. Метаболические основы иммунологических нарушений в клетках с трисомией по 21 хромосоме. – Л., 1982. – 35 c. [Shvarts EI. Metabolicheskie osnovy immunologicheskikh narusheniy v kletkakh s trisomiey po 21 khromosome. Leningrad; 1982. 35 p. (In Russ.)]
  16. Шварц Е.И., Иващенко Т.Э., Гольцов А. А., и др. Использование метода цепной реакции синтеза ДНК для анализа частоты рестрикционного полиморфизма ДНК-локуса CS-7 в популяции и в семьях больных муковисцидозом // Доклады Академии Наук СССР. – 1989. – Т. 307. – № 2. – С. 467–469. [Shvarts EI, Ivashchenko TE, Gol’tsov AA, et al. DNA polymerase chain reaction in analysis of restriction polymorphism frequency of the DNA locus CS-7 in the population and in families of patients with mucoviscidosis. Doklady Akademii Nauk SSSR. 1989;307(2): 467-469. (In Russ.)]
  17. Якимовский А.Ф., Пушнова Е.А., Ахмедова С.Н., Автономов В.В. Молекулярно-генетические и токсико-экологические основы этиологии и патогенеза болезни Паркинсона (паркинсонизма) // Журнал неврологии и психиатрии им. C.C. Корсакова. – 1997. – T. 97. – № 4. – C. 69–73. [Yakimovskiy AF, Pushnova EA, Akhmedova SN, Avtonomov VV. Molecular-genetic and toxico-ecological basis of the etiology and pathogenesis of the Parkinson disease (parkinsonism). S.S. Korsakov journal of neurology and psychiatry. 1997;97(4):69-73. (In Russ.)]
  18. Akhmedova S, Anisimov S, Yakimovsky A, Schwartz E. Gln-Arg 191 polymorphism of paraoxonase and Parkinson’s disease. Hum Hered. 1999;49(3):178-180. https://doi.org/10.1159/000022868.
  19. Akhmedova SN, Yakimovsky AK, Schwartz E. Paraoxonase 1 Met-Leu 54 polymorphism is associated with Parkinson’s disease. J Neurol Sci. 2001;184(2):179-182. https://doi.org/10.1016/s0022-510x(01)00439-7.
  20. Baranovskaya S, Kudinov S, Fomicheva E, et al. Age as a risk factor for myocardial infarction in Leiden mutation carriers. Mol Genet Metab. 1998;64(2):155-157. https://doi.org/10.1006/mgme.1998.2697.
  21. Chakir K, Skobeleva NA, Schevtsov SP, et al. Two novel slavic point mutations in the low density lipoprotein receptor gene in patients with familial hypercholesterolemia in St. Petersburg, Russia. Mol Genet Metab. 1998;63(1):31-34. https://doi.org/10.1006/mgme.1997.2614.
  22. Fomicheva E, Gukova S, Larionova-Vasina V, et al. Gene-gene interaction in the RAS system in the predisposition to myocardial infarction in elder population of St. Petersburg (Russia). Mol Genet Metab. 2000;69(1):76-80. https://doi.org/10.1006/mgme.1999.2924.
  23. Mandelshtam M, Chakir K, Shevtsov S, et al. Prevalence of Lithuanian mutation among St. Petersburg Jews with familial hypercholesterolemia. Hum Mut. 1998;12(4):255-258. https://doi.org/10.1002/(SICI)1098-1004(1998)12:4<255:: AID-HUMU6>3.0.CO;2-E.
  24. Pchelina SN, Sirotkina OV, Taraskina AE, et al. The frequency of cytochrome P450 2C9 genetic variants in Russian population and their associations with individual sensitivity to warfarin therapy. Thromb Res. 2005;115(3):199-203. https://doi.org/10.1016/j.thromres.2004.08.020.
  25. Popov V, Fomicheva E, Kovalev J, Schwartz E. Absence of association between the angiotensin-converting enzyme gene polymorphism and borderline hypertension in men of St. Petersburg, Russia. J Hum Hypertens. 1996;10(8):557-559.
  26. Pushnova EA, Ahmedova SN, Shevtsov SP, Schwartz EI. A rapid and simple DNA fingerprinting method by means of RFLP and SSCP analysis of the hypervariable noncoding region of human mitochondrial DNA. Human Mutation. 1994;3:292-296. https://doi.org/10.1002/humu.1380030318.
  27. Schwartz EI, Khalchitsky SE, Eisensmith RC, Woo SL. Polymerase chain reaction amplification from dried blood spots on Guthrie cards. Lancet. 1990;336(8715): 639-640. https://doi.org/10.1016/0140-6736(90) 93446-v.
  28. Shcherbak N, Shutskaya Z, Sheidina A, et al. Methelenetetrahydrofolate reductase gene polymorphism as a risk factor for diabetic nephropathy in IDDM patients. Mol Genet Metab. 1999;68(3):375-378. https://doi.org/10.1006/mgme.1999.2909.
  29. Skryabin BV, Khalchitsky SE, Kuzjmin AI, et al. A crude lysate of cells immobilized on solid support can serve as a matrix for enzymatic DNA amplification. Nucleic Acids Research. 1990;18(14):4289. https://doi.org/10.1093/nar/18.14.4289.
  30. Sverdlova AM, Bubnova NA, Baranovskaya SS, et al. Prevalence of the Methylenetetrahydrofolate Reductase (MTHFR) C677T Mutation in patients with varicose veins of lower limbs. Mol Genet Metab. 1998;64(1): 35-36. https://doi.org/10.1006/mgme.1997.2638.
  31. Volkova MV, Vasina (Larionova) VI, Obraztsova GI, Schwartz EI. Identification of the C—>T polymorphism in the +93 position of the apo(a) gene by mismatch PCR-mediated site-directed mutagenesis and restriction enzyme digestion. Biochem Mol Med. 1996;59(1):91-92. https://doi.org/10.1006/bmme. 1996.0071.

Copyright (c) 2020 Gorbunova V.N.

Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.
 


This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies