2024 / 05

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DOI: 10.24075/brsmu.2024.041

ORIGINAL RESEARCH

Clinical population genetic studies of hereditary diseases in the pediatric population of North Ossetia – Alania

Zinchenko RA1, Tebieva IS2,3, Kadyshev VV1, Murtazina AF1, Borovikov AO1, Marakhonov AV1, Perepelov AV4, Getoeva ZK5, Kutsev SI1
About authors

1 Research Centre for Medical Genetics, Moscow, Russia

2 North-Ossetian State Medical Academy, Vladikavkaz, Russia

3 Republican Children’s Clinical Hospital, Vladikavkaz, Russia

4 Obninsk Institute for Nuclear Power Engineering, branch of the National Research Nuclear University (NRNU) MEPhI, Obninsk, Russia

5 Center of Protection of Motherhood and Childhood of the City of Sochi of the Ministry of Health of Krasnodar Krai, Sochi, Russia

Correspondence should be addressed: Rena A. Zinchenko
Moskvorechie, 1, 115522, Moscow, Russia; ur.liam@oknehcnizaner

About paper

Funding: the study was supported as part of the State Assignment of the Research Centre for Medical Genetics and the Ministry of Health of the Republic of North Ossetia–Alania.

Author contribution: Zinchenko RA, Tebieva IS, Kadyshev VV, Murtazina AF, Borovikov AO, Marakhonov AV, Getoeva ZK — patient examination, making the diagnosis, obtaining the informed consent, and biomaterial collection; Zinchenko RA, Tebieva IS — acquisition of data on the number of patients; Zinchenko RA, Tebieva IS, Kutsev SI — study planning, statistical analysis, manuscript writing; Marakhonov AV — analysis of molecular genetic tests; Tebieva IS, Marakhonov AV, Zinchenko RA — editing; Zinchenko RA, Kutsev SI — general management, editing.

Compliance with ethical standards: the study was approved by the Ethics Committee of the Research Centre for Medical Genetics (protocol No. 7 dated 20 December 2017), it was compliant with the standards of Good Clinical Practice and evidence-based medicine. All patients submitted informed consent to participate in the study.

Received: 2024-08-06 Accepted: 2024-09-20 Published online: 2024-10-17
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  1. Online Mendelian Inheritance in Man. Available from: http://www.ncbi.nlm.nih.gov/OMIM (data obrashhenija 31.07.2024)
  2. Ferreira CR. The burden of rare diseases. Am J Med Genet. 2019; 179 (A): 885–92. DOI: 10.1002/ajmg.a.61124.
  3. Wakap SN, Lambert DM, Olry A, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. European Journal of Human Genetics. 2020; 28: 165–73. https://doi.org/10.1038/s41431-019-0508-0.
  4. Passarge E. Color Atlas of Genetics. George Thieme Verlag Stuttgart. 5rd ed. New York, USA, 2017; 474 p.
  5. Bochkov NP. Genetika v praktike pediatra. Pediatrija. 2004; 5: 13– 18. Russian.
  6. Orphanet Reports Series. Available from: http://www.orpha.net/ (data obrashhenija 31.07.2024).
  7. McKusick VA. Ethnic distribution of disease in non-Jews. Israel J Med Sci. 1973; 9: 1375–82.
  8. Dong-Dong Wu and Ya-Ping Zhang. Different level of population differentiation among human genes. BMC Evolutionary Biology. 2011; 11 (16). DOI: 10.1186/1471-2148-11–16.
  9. Goodman RM. Genetic disorders among the Jewish people. Baltimor: The Gohn Hopkins Univ Press. 1980; p. 965–970.
  10. Norio R. Finnish Disease Heritage I: characteristics, causes, background. Hum Genet. 2003; 112: 441–56.
  11. Laberge Anne-Marie. Prevalence and distribution of genetic diseases in Quebec: impact of the past on the present. Medicine sciences. 2007; 23: 997–1001.
  12. De Braekeleer M, Dao T-N. Hereditary disorders in the French Canadian population of Quebec. I. In search of founders. Hum Biol. 1994; 66: 205–24.
  13. De Braekeleer M, Dao T-N. Hereditary disorders in the French Canadian population of Quebec. II. Contribution of Perche. Hum Biol. 1994; 66: 225–50.
  14. Verheij JB, ten Kate LP. Mendelian phenotypes in the Netherlands. Hum Hered. 1993; 43: 223–31.
  15. Zlotogora J, Patrinos GP. The Israeli National Genetic Database: a 10-year experience. Hum Genomics. 2017; 11: 5. DOI: 10.1186/s40246-017-0100-z.
  16. Zlotogora J, Patrinos GP, Meiner V. Ashkenazi Jewish genomic variants: integrating data from the Israeli National Genetic Database and gnomAD. Genet Med. 2018; 20 (8): 867–71. DOI: 10.1038/gim.2017.193.
  17. Bessonova LA, Elchinova GI, Zinchenko RA. Populjacionnaja genetika nasledstvennyh boleznej sredi detskogo naselenija Respublik Bashkortostan, Respublik Chuvashija i Udmurtija. Genetika. 2012; 48 (5): 644–54. Russian.
  18. Zinchenko RA, Elchinova GI, Vetrova NV, Amelina MA, Petrin AN, Amelina SS. Jepidemiologija nasledstvennyh boleznej sredi detskogo naselenija 12 rajonov Rostovskoj oblasti. Otjagoshhennost' nasledstvennyh boleznej i geneticheskaja struktura populjacii. Medicinskaja genetika. 2013; 12 (5): 21–28. Russian.
  19. Zinchenko RA, Vasileva TA, Elchinova GI, Petrova NV, Petrin AN, Ginter EK. Jepidemiologija nasledstvennyh boleznej sredi detskogo naselenija 8 rajonov Respubliki Tatarstan. Jakutskij medicinskij zhurnal. 2014; 2: 17–19. Russian.
  20. Zinchenko RA, Kadyshev VV, Galkina VA, Dadali EL, Mihajlova LK, Marakhonov AV, i dr. Klinicheskaja populjacionnaja genetika nasledstvennyh boleznej sredi detskogo naselenija KarachaevoCherkesskoj Respubliki. Genetika. 2019; 55 (8): 964–71. DOI: 10.1134/S00166758190801860. Russian.
  21. Zinchenko RA, Ginter EK, Marakhonov AV, et al. Epidemiology of rare hereditary diseases in European part of Russia: point and cumulative prevalence. Frontiers in Genetics. 2021; 12: 678957. Available from: https://doi.org/10.3389/fgene.2021.678957.
  22. Ginter EK, Revazov AA, Talanov MI, i dr. Mediko-geneticheskoe izuchenie naselenija Kostromskoj oblasti: 2. Raznoobrazie nasledstvennoj patologii v pjati rajonah oblasti. Genetika. 1985; 21 (8): 1294–301. Russian.
  23. Petrin AN, Ginter EK, Rudenskaja GI, i dr. Mediko-geneticheskoe izuchenie naselenija Kostromskoj oblasti. Soobshhenie 4. Otjagoshhennost' i raznoobrazie nasledstvennoj patologii v 5 rajonah oblasti. Genetika. 1988; 24 (1): 151–55. Russian.
  24. Zinchenko RA, Makaov AKh, Marakhonov AV, et al. Epidemiology of hereditary diseases in Karachay-Cherkess Republic. International Journal of Molecular Sciences. 2020; 21 (1): 325. Available from: https://doi.org/10.3390/ijms21010325.
  25. Сavalli-Sforza LL, Bodmer WF. The Genetics of Human populations. San Francisco, Freeman WH and Company, 1971; 965 p.
  26. Morton NE. Genetic tests under incomplete ascertainment. Am J Hum Genet. 1959; 11: 1–16.