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E. I. SHWARTZ: AT THE ORIGINS OF MOLECULAR MEDICINE

https://doi.org/10.24884/1607-4181-2020-27-1-9-15

Abstract

Eugene I. Schwartz (1940–2003), the first head of the Department of Molecular Genetic Technologies of the Research Center of the Pavlov University, a well-known geneticist, stood at the origins of molecular medicine in Russia. The results of the research work of E. I. Schwartz are introduced now in the work of many clinical centers. He also created one of the first course of medical genetics for physicians in our country. This article reflects the main milestones of the scientific and pedagogical way of E. I. Schwartz, and discusses the achievements of his teams.

About the Author

S. N. Pchelina
Pavlov University, Kurchatov Institute
Russian Federation

Dr. of Sci (Biol.), Head of the Department of Molecular Genetic and Nanobiological Technologies of the Research Center

6-8, L. Tolstoy str., Saint Petersburg, 197022, Russia




References

1. Schwartz E. I., Kaboev O. K., Gol’tsov A. A., Vinogradov S. V., Lebedenko E. N., Berlin Yu. A. Amplification of two segments of the human b-globin gene by means of polymerase chain reaction. Russian Journal of Bioorganic Chemistry. 1988;14(11):1577–1579. (In Russ.).

2. Skryabin B. V., Kovalchuk L. A., Khal’chitskii S. E., Gol’tsov A. A., Kaboev O. K., Plutalov O. V., Berlin Yu. A., Schwartz E. I. Identification of mutation in the 12th exon of the phenylalanine gene in patients with phenylketonuria. Russian Journal of Bioorganic Chemistry. 1989;15(12):1690–1692. (In Russ.).

3. Schwartz E. I., Goltsov A. A., Kaboev O. K. et al. A novel frameshift mutation causing b-thalassaemia in Azerbaijan. Nucleic Acids Research. 1989;17:3997.

4. Schwartz E. I., Khalchitsky S. E., Eisensmith R. C., Woo S. L. Polymerase chain reaction amplification from dried blood spots on Guthrie cards. Lancet. 1990;336:639–640.

5. Voronina O. V., Gaitskhoki V. S., Schwartz E. I., Potapova O. Yu., Berlin Yu. A., Plutalov O. V., Gembitskaya T. E. Polymerase chain reaction in the analysis of deletion F-508 in cystic fibrosis. Russian Journal of Bioorganic Chemistry. 1990;16(10):1430–1431. (In Russ.).

6. Baranovskaya S. S., Shevtsov S. P., Maksimova S. P., Kuzmin A. I., Schwartz E. I. The mutations and VNTRs in the phenylalanine hydroxylase gene of phenylketonuria in St Petersburg. Academy of Science Reports. 1995;340(5):709–711. (In Russ.).

7. Baranovskaya S., Shevtsov S., Maksimova S., Kuzmin A., Schwartz E. The mutations and VNTRs in the phenylalanine hydroxylase gene of phenylketonuria in St Petersburg. J Inherit Metab Dis. 1996;19(5):705.

8. Baranovskaya S., Kudinov S., Fomicheva E., Vasina (Larionova) V., Solovieva D., Khavinson V., Schwartz E. Age as a risk factor for myocardial infarction in Leiden mutation carriers. Mol Genet Metab. 1998;64(2):155–157.

9. Sverdlova (Sheidina) A. M., Bubnova N. A., Baranovskaya S. S., Vasina (Larionova) V. I., Avitisjan A. O., Shwartz E. I. Prevalense of the methylenetetrahydrofolate reductase (MTHFR) C677T mutation in patients with veins of lower limbs. Molecular genetics and metabolism. 1998; 63:35–36.

10. Vavilova T. V., Sirotkina O. V., Kadinskaya M. I., Gricenko V. V., Orlovskiy P. I., Ulitina A. S., Polezhaev D. A., Schwartz E. I. Structural polymorphisms of the CYP2C9 gene and their significance in the prevention of thromboembolic complications with warfarin in patients with artificial heart valves. The Scientific Notes of the Pavlov University. 2003;10(4):40–46. (In Russ.).

11. Pchelina S. N., Sirotkina O. V., Taraskina A. E., Vavilova T. V., Shwartsman A. L., Schwartz E. I. 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.

12. Pushnova E. A., Ahmedova (Pchelina) S. N., Shevtsov S. P., Schwartz E. I. A rapid and simple DNA fingerprinting method by means of RFLP and SSCP analysis of the hypervariable noncoding region of human mitochondrial DNA. Hum Mutat. 1994;3:292–296.

13. Mandelshtam M., Chakir K., Shevtsov S., Golubkov V., Skobeleva N., Lipovetsky B., Konstantinov V., Denisenko A., Gaitskhoki V., Schwartz E. Prevalence of Lithuanian mutation among St. Petersburg Jews with familial hypercholesterolemia. Hum Mutat. 1998;12(4):255–258.

14. Volkova M. V., Vasina (Larionova) V. I., Obraztsova G. I., Schwartz E. I. 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.

15. Schwartz E., Demidova D., Sirotkina O., Kudinov S. The combination of glycoprotein IIIa Pl(A) polymorphism with polymorphism of serotonin transporter as an independent strong risk factor for the occurrence of coronary thrombosis. Molecular Genetics and Metabolism. 2003;79(3):229–230.

16. Akhmedova (Pchelina) S., Anisimov S., Yakimovsky A., Schwartz E. Gln-Arg191 polymorphism of paraoxonase and Parkinson’s disease. Human Heredity. 1999;49: 178–180.

17. Gorbunova V. N., Baranov V. S. Introduction to molecular diagnostics and gene therapy of hereditary diseases. St.Petersburg, Special literature, 1997:287. (In Russ.).

18. Gorbunova V. N. The molecular basis of medical genetics. St.Petersburg, Intermedika, 1999:209. (In Russ.).

19. Vaharlovskiy V. G., Romanenko O. P., Gorbunova V. N. Genetics in pediatric practice. St. Petersburg, Phoenix, 2009:288. (In Russ.).

20. Gorbunova V. N. Molecular genetics – the way to personalized medicine. Pediatrics. 2013;4(1):115–121. (In Russ.).

21. Gorbunova V. N., Strekalov D. L., Suspicin E. N., Imianitov E. N. Clinical genetics. St. Petersburg, Foliant, 2015:396. (In Russ.).

22. Pchelina S. N, Baydakova G. V., Nikolaev M. A., Senkevich K. A., Emelyanov A. K., Kopytova A. E., Miliukhina I. A., Yakimovskii A. F., Timofeeva A. A., Berkivich O. A., Fedotova E. Y., Illarioshkin S. N., Zakharova E. Y. Blood lysosphingolipids accumulation in patients with Parkinson’s disease with GBA mutations. Mov Disord. 2018;33(8):1316–1321.

23. Emelyanov A. K., Usenko T. S., Tesson C., Senkevich K. A., Nikolaev M. A., Miliukhina I. V., Kopytova A. E., Timofeeva A. A., Yakimovsky A. F., Lesage S., Brice A., Pchelina S. N. Mutation analysis of Parkinson’s disease genes in a Russian data set. Neurobiol Aging. 2018;71:267.e7–267.e10.


Review

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Pchelina S.N. E. I. SHWARTZ: AT THE ORIGINS OF MOLECULAR MEDICINE. The Scientific Notes of the Pavlov University. 2020;27(1):9-15. (In Russ.) https://doi.org/10.24884/1607-4181-2020-27-1-9-15

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