• Main page
• About the journal
• Editorial board
• Subscription
• Information for contributors
• Editorial and Peer Review
• Issues archive
• Authors
• Articles
  • By alphabet
  • By category
• Blogs and comments

The journal is included into The list of leading scientific periodicals.

The journal is included into VINITI database and is registered in Electronic scientific library.

The journal is indexed by SCOPUS, Ulrich's International Periodicals Directory.

EBSCO

https://doi.org/10.14300/mnnc.2020.15042

The features of spectrum and frequency of CFTR gene mutations in populations of Southern Russia and Northern Caucasus

[Cystic fibrosis]
Nika Valentinovna Petrova; Natalia Yuryevna Kashirskaya; Elena Ivanovna Kondratieva; Zalina Kazbekovna Getoeva; Tatyana Vasilyeva; Anna Yuryevna Voronkova; Victoria Davidovna Sherman; Rena Zinchenko;

The spectra and frequencies of CFTR pathogenic variants in CF patients from the Southern Federal District and North Caucasus regions were compared. 299 unrelated CF patients from the southern Russia and 165 from the North Caucasian Federal District were tested. Russians accounted for about 80 % of CF patients in the Southern Federal District. Variants F508del (58 %), CFTRdele2,3 (6 %) were prevalent in southern Russia which is typical for all Russian patients. The maximum frequency of F508del (65,5 %) was in the Krasnodar Territory, the minimum – in the Rostov Region (56.9 %), the frequency of CFTRdele2,3 was 8.7 % in the Rostov Region and 6 % in the Krasnodar Territory. In the North Caucasus, the most frequent variants were F508del (24 %), 1677delTA (23 %), W1282X (15 %). The most common variants in Russians from the Stavropol Territory were F508del (49.1 %) and CFTRdele2,3 (4.6 %); W1282X (88.9 %) – in Karachay CF patients; 1677delTA (67.3 %) and E92K (9.2 %) – in Chechen CF patients. In Ingush only 1677delTA variant was found. In CF Ossetian patients the variants W1282X and F508del were recurrent. A high diversity of the spectrum of CFTR variants (11/13 patients) and a high proportion of homozygous for different variants genotypes (61.5 %) was revealed in patients from Dagestan. This is probably due to marriage ethnic assortativeness. The differences of spectrum and frequency of CFTR variants in CF patients of the Southern Federal District and the North Caucasian Federal District is due to both geographical factors and a multi-ethnic composition of the population.

Download

References:
1.Sosnay P. R., Raraigh K. S., Gibson R. L. Molecular Genetics of Cystic Fibrosis Transmembrane Conductance Regulator: Genotype and Phenotype. Pediatr. Clin. North Am. 2016;63(4):585-598. https://doi.org/10.1016/j.pcl.2016.04.002
2. Farrell P. M., White T. B., Howenstine M. S., Munck A., Parad R. B. [et al.]. Diagnosis of Cystic Fibrosis in Screened Populations J. Pediatr. 2017;181:33-44.e2. https://doi.org/10.1016/j.jpeds.2016.09.065
3. De Boeck K., Vermeulen F., Dupont L. The diagnosis of cystic fibrosis. Presse Medicale. 2017;46(6Pt2):e97-e108. https://doi.org/10.1016/j.lpm.2017.04.010
4. Register of patients with cystic fibrosis in the Russian Federation. 2017. Edited by Voronkova A. Yu., Amelina E. A., Kashirskaya N. Yu., Kondratieva E. I., Krasovsky S. A. [et al.]. M.: «MEDPRAKTIKA-M»; 2019. (In Russ.).
5. Petrova N. V., Kondratyeva E. I., Krasovsky S. A., Polyakov A. V., Ivachshenko T. E. [et al.]. National Consensus Project «Cystic fibrosis: definition, diagnostic criteria, treatment» Section «Genetics of Cystic Fibrosis. Molecular genetic diagnosis of cystic fibrosis». Meditsinskaya Genetica. – Medical genetics. 2016;11(173):29-45. (In Russ.).
6. Website about countries, cities, population statistics, etc. Available at: http://www.statdata.ru/naselenie-federalnyh-okrugov-rossii. Accessed 14 January, 2020. (In Russ.).
7. Kuznetsov V. A. Introduction to the study of Caucasus (historical and ethnological reviews of the ethnic groups of the North Caucasus). Vladikavkaz: Publisher V. A. Gassiev, 2004. (In Russ.).
8. Ivashchenko T. E., Baranov V. S. Biohemical and molecular genetic basics of cystic fibrosis pathogenesis. Saint-Petersburg: «Intermedika»; 2002. (In Russ.).
9. The molecular genetic epidemiology of cystic fibrosis. Report of a Joint Meeting of WHO/ECFTN/ICF(M)/ECFS. World Health Organization (WHO). Genoa, 2002. Human Genetics Programme, 2004. Available at: https://www.cfww.org/docs/who/2002/who_hgn_cf_wg_04.02.pdf. Accessed 14 January, 2020. 10. Petrova N. V., Kashirskaya N. Yu., Vasilieva T. A., Timkovskaya E. E., Voronkova A. Yu. [et al.]. High proportion of W1282X mutation in CF patients from Karachai-Cherkessia. J. Cyst. Fibrosis. 2016;15(3):e28-e32. https://doi.org/10.1016/j.jcf.2016.02.003

Keywords: cystic fibrosis, spectrum and frequency of CFTR gene variants, Southern Russia, North Caucasus